Hirotomo Saitsu

Summary

Affiliation: Yokohama City University
Country: Japan

Publications

  1. doi request reprint STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Epilepsia 51:2397-405. 2010
  2. doi request reprint De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
    Hirotomo Saitsu
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan
    Nat Genet 45:445-9, 449e1. 2013
  3. doi request reprint Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)
    Hirotomo Saitsu
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa Ku, Yokohama, Japan
    Am J Med Genet A 158:199-205. 2012
  4. pmc Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 89:644-51. 2011
  5. doi request reprint CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Epilepsia 53:1441-9. 2012
  6. doi request reprint A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Brain Dev 34:364-7. 2012
  7. ncbi request reprint Paternal mosaicism of an STXBP1 mutation in OS
    H Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa Ku, Japan
    Clin Genet 80:484-8. 2011
  8. doi request reprint De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 155:2879-84. 2011
  9. pmc Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 86:881-91. 2010
  10. doi request reprint Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Am J Med Genet A 149:1224-30. 2009

Detail Information

Publications71

  1. doi request reprint STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Epilepsia 51:2397-405. 2010
    ..Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects...
  2. doi request reprint De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
    Hirotomo Saitsu
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan
    Nat Genet 45:445-9, 449e1. 2013
    ..These findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans...
  3. doi request reprint Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)
    Hirotomo Saitsu
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa Ku, Yokohama, Japan
    Am J Med Genet A 158:199-205. 2012
    ..Thus, SRGAP2 is very likely to play a role in the developing human brain. This is a first report of the SRGAP2 abnormality associated with early infantile epileptic encephalopathy...
  4. pmc Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 89:644-51. 2011
    ..We hypothesize that perturbation of Pol III target transcription, especially of tRNAs, could be a common pathological mechanism underlying POLR3A and POLR3B mutations...
  5. doi request reprint CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Epilepsia 53:1441-9. 2012
    ..STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed to identify new genes involved in OS by copy number analysis and whole exome sequencing...
  6. doi request reprint A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Brain Dev 34:364-7. 2012
    ....
  7. ncbi request reprint Paternal mosaicism of an STXBP1 mutation in OS
    H Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa Ku, Japan
    Clin Genet 80:484-8. 2011
    ..3%, 8.7%, 11.9%, and 16.9% of alleles harbored the mutation, respectively. This is a first report of somatic mosaicism of an STXBP1 mutation, which has implications in genetic counseling of OS...
  8. doi request reprint De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 155:2879-84. 2011
    ..We speculate that the translocation may disrupt the proper regulation of MEF2C expression in the developing brain, resulting in severe intellectual disability and early-onset epileptic encephalopathy...
  9. pmc Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 86:881-91. 2010
    ..These findings suggest that pathological aggregation of alpha/beta spectrin heterodimers and abnormal AIS integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy...
  10. doi request reprint Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Am J Med Genet A 149:1224-30. 2009
    ..LMTK2 appeared to be a potential candidate gene for SHFM1, but no LMTK2 mutations were found in 29 individuals with SHFM. Further LMTK2 analysis of SHFM patients together with hearing loss is warranted...
  11. doi request reprint De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Nat Genet 40:782-8. 2008
    ..Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE...
  12. doi request reprint Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development
    Hirotomo Saitsu
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Fukuura, Kanazawa Ku, Yokohama, Japan
    Congenit Anom (Kyoto) 48:1-6. 2008
    ..These findings suggest that the AM in human embryos plays some role in normal and abnormal development of the human posterior neural tube...
  13. ncbi request reprint Aberrant differentiation of the axially condensed tail bud mesenchyme in human embryos with lumbosacral myeloschisis
    Hirotomo Saitsu
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    Anat Rec (Hoboken) 290:251-8. 2007
    ..The aberrant differentiation of the AM in embryos with lumbosacral myeloschisis suggests that the AM plays some roles in normal as well as abnormal development of the human posterior neural tube...
  14. ncbi request reprint De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy
    Hirofumi Kodera
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, 236 0004, Japan
    Hum Mutat 34:1708-14. 2013
    ..We hypothesize that a substantial number of neurons might express the mutant SLC35A2 allele and suffer from defective galactosylation, resulting in EOEE. ..
  15. doi request reprint MLL2 and KDM6A mutations in patients with Kabuki syndrome
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 161:2234-43. 2013
    ..Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations...
  16. doi request reprint Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
    Yukiko Kondo
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Am J Med Genet A 161:1543-6. 2013
    ..A c.683C>T (p.Thr228Met) in FNBP4 was found as a primary candidate, drawing the attention that FNBP4 and SMOC1 may potentially modulate BMP signaling...
  17. pmc Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
    Yukiko Kondo
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236 0004, Japan
    Mol Vis 19:384-9. 2013
    ..However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract...
  18. doi request reprint KDM6A point mutations cause Kabuki syndrome
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Hum Mutat 34:108-10. 2013
    ..In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS...
  19. pmc De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy
    Kazuyuki Nakamura
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama, Japan
    Am J Hum Genet 93:496-505. 2013
    ..These data suggest that aberrant Gαo signaling can cause multiple neurodevelopmental phenotypes, including epileptic encephalopathy and involuntary movements. ..
  20. doi request reprint Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity
    Satoko Miyatake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 57:804-6. 2012
    ..This is the first report of sibling MMD cases with different doses of the RNF213 variant, showing its genetic impact on clinical phenotype even in members with similar genetic background...
  21. doi request reprint A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
    Yukiko Kondo
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 57:197-201. 2012
    ..Considering the presence of bilateral 2nd-3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family...
  22. doi request reprint PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
    Kazuyuki Nakamura
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Epilepsia 55:e13-7. 2014
    ..Our findings therefore expand the clinical spectrum of GPI-anchor deficiencies involving PIGO mutations to include epileptic encephalopathy with mild elevation of ALP. ..
  23. ncbi request reprint Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia
    Hiroshi Doi
    Department of Human Genetics, Yokohama City University, Japan
    Intern Med 52:1629-33. 2013
    ..This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis. ..
  24. ncbi request reprint A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
    Eri Imagawa
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236 0004, Japan
    Hum Genet 133:225-34. 2014
    ..This is the first report of GYG2 mutation in human, implying a possible link between GYG2 abnormality and LS. ..
  25. ncbi request reprint A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
    Haruka Hamanoue
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 149:336-42. 2009
    ..Further families are needed to confirm this candidate locus...
  26. ncbi request reprint The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 58:113-5. 2013
    ..Compared with conventional Sanger sequencing, WES appears to be advantageous with regard to speed and cost, supporting its potential utility in molecular diagnosis...
  27. doi request reprint Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly
    Yuriko Yoneda
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
    Ann Neurol 73:48-57. 2013
    ..In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations...
  28. doi request reprint Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
    Takeshi Mizuguchi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236 0004, Japan
    J Hum Genet 53:914-9. 2008
    ..It is noteworthy that 10% of patients with schizophrenia have (sub)microscopic chromosomal abnormalities, indicating that genome-wide copy number survey should be considered in genetic studies of schizophrenia...
  29. ncbi request reprint Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy
    Satoko Miyatake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Neuromuscul Disord 24:642-7. 2014
    ..4%, 1.1%, and 8.3% in the saliva, blood leukocytes, and nails, respectively. Our study demonstrates the possibility of very-low-grade somatic mosaicism in suspected carriers, rather than germline mosaicism. ..
  30. ncbi request reprint Co-occurrence of 22q11 deletion syndrome and HDR syndrome
    Ryoko Fukai
    Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 161:2576-81. 2013
    ..Unbiased genetic analysis using whole genome copy number SNP arrays is especially useful for detecting such rare double mutations...
  31. doi request reprint A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome
    Satoko Miyatake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 161:1073-7. 2013
    ..Interestingly, the deleted region overlaps with the critical region for 16q24.3 microdeletion syndrome. We discuss the clinical entities of KBG syndrome and 16q24.3 microdeletion syndrome from a clinical and genetic point of view...
  32. doi request reprint Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing
    Haruya Sakai
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    Hum Genet 131:591-9. 2012
    ..Next-generation sequencing was able to detect almost all types of mutation, but requires improved informatics methods...
  33. ncbi request reprint Angelman syndrome caused by an identical familial 1,487-kb deletion
    Kanako Sato
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 143:98-101. 2007
  34. ncbi request reprint A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    Satoko Miyatake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
    Intern Med 51:2221-6. 2012
    ..We should be aware of atypical features of ARSACS for the correct diagnosis...
  35. doi request reprint Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    J Med Genet 48:606-9. 2011
    ..Conventional PCR-based direct sequencing of candidate genes for a family with X-linked leucoencephalopathy with unknown aetiology failed to identify any causative mutations...
  36. ncbi request reprint Analysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow tract development
    Hirotomo Saitsu
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida, Sakyo ku, Kyoto 606 8501, Japan
    Mech Dev 123:665-73. 2006
    ....
  37. doi request reprint Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain
    Lanying Zhao
    Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Yoshida, Sakyo ku, Kyoto, Japan
    Mech Dev 127:62-72. 2010
    ..Also unchanged patterns of Raldh2 and Raldh3 suggest that retinoic acid is not the downstream to Shh signaling to control the ventral optic cup morphology...
  38. ncbi request reprint PIGA mutations cause early-onset epileptic encephalopathies and distinctive features
    Mitsuhiro Kato
    From the Department of Pediatrics M K, K H, Yamagata University Faculty of Medicine, Yamagata Department of Human Genetics H S, C O, M N, Y T, N Miyake, N Matsumoto, Yokohama City University Graduate School of Medicine, Yokohama Department of Immunoregulation Y M, T K, Research Institute for Microbial Diseases, and WPI Immunology Frontier Research Center, Osaka University, Suita Division of Neurology K K, R M, S i H, Saitama Children s Medical Center, Saitama Division of Neurology S W, Miyagi Children s Hospital, Sendai Division of Neurology M I, H O, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama Department of Pediatrics K M, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama Department of Pediatrics R T, Aomori Prefectural Central Hospital, Aomori and Department of Pediatrics H O, Jichi Medical School, Tochigi, Japan
    Neurology 82:1587-96. 2014
    ..To investigate the clinical spectrum caused by mutations in PIGA at Xp22.2, which is involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor, among patients with early-onset epileptic encephalopathies (EOEEs)...
  39. ncbi request reprint PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
    Chihiro Ohba
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3 9 Fukuura, Kanazawa Ku, Yokohama, 236 0004, Japan
    Neurogenetics 15:85-92. 2014
    ..Our findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum...
  40. ncbi request reprint Novel FIG4 mutations in Yunis-Varon syndrome
    Junya Nakajima
    1 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan 2 Department of Pediatrics, Tokyo Medical University, Shinjuku, Japan
    J Hum Genet 58:822-4. 2013
    ..These two mutations were mutations supposed to have null function. To our knowledge, this is the second report of FIG4 mutations in YVS and our result supports the idea that biallelic null mutations of FIG4 cause YVS in human. ..
  41. pmc Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder
    Eriko Koshimizu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    PLoS ONE 8:e74167. 2013
    ..Thus, our results support the combination of target gene enrichment and NGS as a valuable molecular method for investigating rare variants in ASD. ..
  42. pmc De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly
    Yuriko Yoneda
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa Ku, Japan
    Am J Hum Genet 90:86-90. 2012
    ..The c.3110G>A mutation occurred de novo. Our study confirmed that abnormalities of the α1α1α2 heterotrimers of type IV collagen cause porencephaly and stresses the importance of screening for COL4A2 as well as for COL4A1...
  43. ncbi request reprint Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period
    Daisuke Higashiyama
    Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Birth Defects Res A Clin Mol Teratol 79:513-23. 2007
    ..In the present study, we examined the morphological changes in the craniofacial structures of mouse embryos/fetuses at intervals following ethanol treatment and evaluated gene expression patterns in the embryos...
  44. ncbi request reprint Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
    Chihiro Ohba
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3 9 Fukuura, Kanazawa Ku, Yokohama, 236 0004, Japan
    Neurogenetics 14:225-32. 2013
    ..Our data clearly demonstrate the utility of whole exome sequencing for genetic diagnosis of childhood cerebellar and/or vermis atrophy. ..
  45. ncbi request reprint A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2
    Junya Nakajima
    1 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan 2 Department of Pediatrics, Tokyo Medical University, Shinjuku, Japan
    J Hum Genet 59:229-32. 2014
    ..Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase...
  46. doi request reprint A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
    Ryoko Fukai
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 164:1021-8. 2014
    ....
  47. ncbi request reprint De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
    Chihiro Ohba
    1 Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan 2 Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan
    J Hum Genet 59:292-5. 2014
    ..Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations...
  48. doi request reprint A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter
    Atsushi Fujita
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 161:1904-9. 2013
    ..This study reaffirms that the single nucleotide polymorphism (SNP) array is a powerful tool to screen for UPD in a single experiment, especially in cases of isodisomy...
  49. doi request reprint Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
    Hirofumi Kodera
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Epilepsia 54:1262-9. 2013
    ..In this study, we performed targeted capture and sequencing of a subset of genes to detect point mutations and CNVs simultaneously...
  50. ncbi request reprint Expression dynamics of the LIM-homeobox genes, Lhx1 and Lhx9, in the diencephalon during chick development
    Xiangnan Sun
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida, Sakyo ku, Kyoto, Japan
    Int J Dev Biol 52:33-41. 2008
    ..Our data suggest that the LIM-homeobox genes, Lhx1 and Lhx9, regulated by ventral and/or dorsal signals, may play important roles in controlling regionalization of the diencephalon during chick development...
  51. doi request reprint Expression of Fgf15 is regulated by both activator and repressor forms of Gli2 in vitro
    Munekazu Komada
    Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Yoshida, Sakyo ku, Kyoto 606 8501, Japan
    Biochem Biophys Res Commun 369:350-6. 2008
    ..These findings suggest that the repressor form of Gli2 preferentially binds to the GliREs to control Fgf15 expression...
  52. pmc Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
    Hiroshi Doi
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3 9 Fukuura, Kanazawa Ku, Yokohama, Japan
    Am J Hum Genet 89:320-7. 2011
    ....
  53. doi request reprint Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease
    Hitoshi Osaka
    Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama, Japan
    Ann Neurol 68:250-4. 2010
    ..These findings suggest not only that the SOX10-to-GJC2 transcriptional dysregulation is a cause of PMLD, but also that GJC2 may be in part responsible for the central hypomyelination caused by SOX10 mutations...
  54. ncbi request reprint Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Hum Mutat 34:446-52. 2013
    ..This is the first described human disease caused by a core protein abnormality in mitochondrial CIII...
  55. ncbi request reprint Expression of the mouse Fgf15 gene is directly initiated by Sonic hedgehog signaling in the diencephalon and midbrain
    Hirotomo Saitsu
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida, Sakyo ku, Kyoto 606 8501, Japan
    Dev Dyn 232:282-92. 2005
    ..These findings indicate that Fgf15 is directly regulated by Shh signaling through Gli proteins...
  56. doi request reprint Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
    Hitoshi Osaka
    Division of Neurology, Kanagawa Children s Medical Center, Yokohama, Japan
    Mol Genet Metab 106:43-7. 2012
    ..Our case supports the idea that the loss of BAP31 is related to liver dysfunction and hearing loss...
  57. doi request reprint Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Nat Genet 44:376-8. 2012
    ..Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B...
  58. ncbi request reprint Development of the posterior neural tube in human embryos
    Hirotomo Saitsu
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida, Sakyo ku, Kyoto 606 8501, Japan
    Anat Embryol (Berl) 209:107-17. 2004
    ..Our observation suggests that the junctional region of the PNT is distinct from other regions in terms of the relationship with the notochord and the mode of cavitation during secondary neurulation...
  59. ncbi request reprint Signaling cascade coordinating growth of dorsal and ventral tissues of the vertebrate brain, with special reference to the involvement of Sonic Hedgehog signaling
    Makoto Ishibashi
    Department of Anatomy and Developmental Biology and Kyoto University, Kyoto, Japan
    Anat Sci Int 80:30-6. 2005
    ..These data suggest the coordinating role of the Shh-FGF15-Wnt/BMP signaling cascade between the ventral and dorsal parts of the brain...
  60. ncbi request reprint Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects
    Haruka Hamanoue
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Cardiol Young 19:482-5. 2009
    ..We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects...
  61. ncbi request reprint Spatial and temporal expression of folate-binding protein 1 (Fbp1) is closely associated with anterior neural tube closure in mice
    Hirotomo Saitsu
    Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Dev Dyn 226:112-7. 2003
    ..Fbp1 also showed intense expression in the yolk sac, indicating that FBP1 may mediate transferring maternal folate to embryos during neurulation. These findings indicate close association between Fbp1 and anterior neural tube closure...
  62. doi request reprint A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa Ku, Yokohama, Japan
    Neurogenetics 13:327-32. 2012
    ..Their clinical features were consistent with those of our family. Our study has demonstrated that the same DYNC1H1 mutation could cause spinal muscular atrophy as well as distal neuropathy, indicating pleotropic effects of the mutation...
  63. doi request reprint Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
    Yuriko Yoneda
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 57:207-11. 2012
    ..In individuals with Sotos-like features unrelated to NSD1 changes, genetic testing of NFIX should be considered...
  64. pmc SMOC1 is essential for ocular and limb development in humans and mice
    Ippei Okada
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 88:30-41. 2011
    ..Our findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice...
  65. doi request reprint Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice: Wnt7A suppresses nail-like structure development in mice
    Sumiko Kimura
    Congenital Anomaly Research Center, Kyoto University, Japan
    Birth Defects Res A Clin Mol Teratol 88:487-96. 2010
    ..The most important evidence for this was the presence of surface pads, typical characteristics of ventral structures, on the dorsal side of digital tips and at the base of digits and their pigmentation...
  66. doi request reprint De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
    Hiromi Tadaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Hum Genet 56:343-7. 2011
    ..The duplications encompass NLRP family (NLRP2, NLRP9 and NLRP11) as well as IL11 and HSPBP1, all of which have an important role in inflammatory pathways. These genes may significantly contribute to the pathogenesis of s-JIA...
  67. doi request reprint Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation
    Karin Writzl
    Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia
    Epilepsia 53:e106-10. 2012
    ..Coloboma-like optic discs might be an additional feature observed in patients with SPTAN1 mutations...
  68. ncbi request reprint Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236 0004, Japan
    Hum Mutat 31:966-74. 2010
    ..These findings indicate the important role of decorin DS in the extracellular matrix and a novel pathomechanism in EDS...
  69. ncbi request reprint FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
    Akira Nishimura
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 143:694-8. 2007
    ..FBN2 mutations were only found at introns 30, 31, and 35 in this study. Thus analysis of a mutational hotspot from exons 22 to 36 (a middle part) of FBN2 should be prioritized in CCA as previously suggested...
  70. doi request reprint Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
    Akira Nishimura-Tadaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
    J Hum Genet 56:156-60. 2011
    ....
  71. doi request reprint Craniosynostosis in a patient with a de novo 15q15-q22 deletion
    Yoko Hiraki
    Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan
    Am J Med Genet A 146:1462-5. 2008
    ..The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient...