SH3TC2

Summary

Gene Symbol: SH3TC2
Description: SH3 domain and tetratricopeptide repeats 2
Alias: CMT4C, MNMN, SH3 domain and tetratricopeptide repeat-containing protein 2, SH3 domain and tetratricopeptide repeats-containing protein 2
Species: human

Top Publications

  1. doi Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C
    Kazushi Ichikawa
    Department of Pediatrics, Odawara Municipal Hospital, Odawara, Japan
    Pediatr Int 58:1252-1254. 2016
  2. doi Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy
    Stéphane Mathis
    From the Service de Neurologie, CHU de Poitiers, Universite de Poitiers, Poitiers, France SM EA 6309 Maintenance myélinique et Neuropathies Périphériques, Faculte de Medecine, Universite de Limoges, Limoges, France SM, BF, LM, LR, J MV Service et Laboratoire de Neurologie, Centre de Référence Neuropathies périphériques rares, CHU de Limoges, Limoges, France BF, LM, LR, J MV Départements de Génétique, Biochimie et génétique moléculaire, CHU de Limoges, Limoges, France BF Inserm U983, Institut Imagine, Centre de Référence MARHEA, and Service de Néphrologie pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France OB Université Paris Descartes, Sorbonne Paris Cité, Paris, France OB, CA Services de Neurologie et d Anatomie Pathologique, CHU de Bicetre, Department of Urology
    J Neuropathol Exp Neurol 73:223-33. 2014
  3. doi Vestibular impairment in Charcot-Marie-Tooth disease type 4C
    Herminio Perez-Garrigues
    Departments of Otology, Valencia, Spain
    J Neurol Neurosurg Psychiatry 85:824-7. 2014
  4. pmc Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2
    Megan Hwa Brewer
    Department of Human Genetics
    Hum Mol Genet 23:5171-87. 2014
  5. pmc Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
    Magdalena Zimon
    Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium
    Neurogenetics 16:33-42. 2015
  6. doi Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population
    Fiore Manganelli
    Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy
    J Peripher Nerv Syst 19:292-8. 2014
  7. doi Phenotypic variability of CMT4C in a French-Canadian kindred
    Talia L Varley
    Department of Medicine, Neuromuscular Disease Clinic, McMaster University, Hamilton, HSC Room 2H22, 1200 Main Street West, Ontario, Canada, L8N 3Z5
    Muscle Nerve 52:444-9. 2015
  8. doi First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities
    Umesh Dinkar Kalane
    Department of Pediatric Neurology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India
    Neurol India 63:395-8. 2015
  9. doi Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain
    L Guan
    Peking University Sixth Hospital, Peking University Institute of Mental Health, Key Laboratory of Mental Health, Ministry of Health Peking University, Beijing, China
    Mol Psychiatry 21:1244-50. 2016
  10. doi Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, Uniklinik RWTH Aachen, Aachen, Germany Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria Electronic address
    Neuromuscul Disord 26:132-5. 2016

Research Grants

  1. MOLECULAR STUDIES IN C/M/T DISEASE TYPE 4 B AND C
    Kamel Ben Othmane; Fiscal Year: 2001

Scientific Experts

  • Petra Lassuthová
  • Jean Michel Vallat
  • Sabine Rudnik-Schoneborn
  • Ming Min Gu
  • A Lacour
  • Nilufer Sahin-Calapoğlu
  • Rhys C Roberts
  • H Houlden
  • Jan Senderek
  • H Azzedine
  • Meriem Tazir
  • R Kikuno
  • C Espinos
  • John B Vincent
  • Kamel Ben Othmane
  • Yesim Parman
  • Hiroshi Takashima
  • Magdalena Zimon
  • Jonathan Baets
  • Francesc Palau
  • T Sevilla
  • Benoit Funalot
  • Roman Chrast
  • Vincenzo Lupo
  • Peter De Jonghe
  • Vincent Timmerman
  • Esra Battaloglu
  • Claudia Stendel
  • Estelle Arnaud
  • Ueli Suter
  • James D Doecke
  • L Guan
  • Zhen Yu
  • Sauparnika Vijay
  • Kazushi Ichikawa
  • Giuseppe Piscosquito
  • Talia L Varley
  • Umesh Dinkar Kalane
  • Stephan Zuchner
  • Akihiro Hashiguchi
  • Herminio Perez-Garrigues
  • Fiore Manganelli
  • Megan Hwa Brewer
  • Stéphane Mathis
  • Albena Jordanova
  • Dana Gabrikova
  • Estelle Arnaud Gouttenoire
  • Masahiro Iguchi
  • Makiko Hayashi
  • Els De Vriendt
  • Haluk Topaloglu
  • Mary M Reilly
  • Tine Deconinck
  • Carina Fischer
  • Marion Yger
  • Fatima Jaffer
  • Michaela Auer-Grumbach
  • Teresa Sevilla
  • Günther Bernert
  • Fanny Schüpfer
  • Jean Jacques Medard
  • James R Lupski
  • J M Millan
  • F Palau
  • Bernhard Luscher
  • Andreas Roos
  • Henning Kleine
  • Jennifer Zenker
  • J Colomer
  • D Kabzinska
  • Li Wang
  • Isabelle Gosselin
  • Eric LeGuern
  • Birdal Bilir
  • R Claramunt
  • Philipp Berger
  • Jaume Colomer
  • O Dubourg
  • R Gooding
  • E LeGuern
  • Claudia Ciano
  • H Ma
  • W Cong
  • F Ye
  • Paola Saveri
  • X Qiao
  • C Han
  • Keith Baggerly
  • H Wang
  • F Liu

Detail Information

Publications59

  1. doi Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C
    Kazushi Ichikawa
    Department of Pediatrics, Odawara Municipal Hospital, Odawara, Japan
    Pediatr Int 58:1252-1254. 2016
    ..form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C...
  2. doi Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy
    Stéphane Mathis
    From the Service de Neurologie, CHU de Poitiers, Universite de Poitiers, Poitiers, France SM EA 6309 Maintenance myélinique et Neuropathies Périphériques, Faculte de Medecine, Universite de Limoges, Limoges, France SM, BF, LM, LR, J MV Service et Laboratoire de Neurologie, Centre de Référence Neuropathies périphériques rares, CHU de Limoges, Limoges, France BF, LM, LR, J MV Départements de Génétique, Biochimie et génétique moléculaire, CHU de Limoges, Limoges, France BF Inserm U983, Institut Imagine, Centre de Référence MARHEA, and Service de Néphrologie pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France OB Université Paris Descartes, Sorbonne Paris Cité, Paris, France OB, CA Services de Neurologie et d Anatomie Pathologique, CHU de Bicetre, Department of Urology
    J Neuropathol Exp Neurol 73:223-33. 2014
    ..of unmyelinating Schwann cell cytoplasm with supernumerary elongated extensions similar to those described in CMT4C. We also observed abnormal accumulation of β-actin in the cytoplasm of Schwann cells...
  3. doi Vestibular impairment in Charcot-Marie-Tooth disease type 4C
    Herminio Perez-Garrigues
    Departments of Otology, Valencia, Spain
    J Neurol Neurosurg Psychiatry 85:824-7. 2014
    Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness...
  4. pmc Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2
    Megan Hwa Brewer
    Department of Human Genetics
    Hum Mol Genet 23:5171-87. 2014
    Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2) gene cause autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy...
  5. pmc Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
    Magdalena Zimon
    Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium
    Neurogenetics 16:33-42. 2015
    ..differentiation protein 1—GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2—SH3TC2, histidine-triad nucleotide binding protein 1—HINT1) identified pathogenic mutations in 41 patients...
  6. doi Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population
    Fiore Manganelli
    Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy
    J Peripher Nerv Syst 19:292-8. 2014
    ..PMP22 duplication was the most common mutation while the second gene in order of frequency was MPZ in familial and SH3TC2 in isolated cases...
  7. doi Phenotypic variability of CMT4C in a French-Canadian kindred
    Talia L Varley
    Department of Medicine, Neuromuscular Disease Clinic, McMaster University, Hamilton, HSC Room 2H22, 1200 Main Street West, Ontario, Canada, L8N 3Z5
    Muscle Nerve 52:444-9. 2015
    Charcot-Marie-Tooth type 4C (CMT4C) is an autosomal recessive dysmyelinating neuropathy characterized by precocious and rapidly progressive scoliosis.
  8. doi First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities
    Umesh Dinkar Kalane
    Department of Pediatric Neurology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India
    Neurol India 63:395-8. 2015
    ..Our patient was proven to have one of the common mutations in the SH3TC2 gene, which has so far not been described in Indian patients.
  9. doi Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain
    L Guan
    Peking University Sixth Hospital, Peking University Institute of Mental Health, Key Laboratory of Mental Health, Ministry of Health Peking University, Beijing, China
    Mol Psychiatry 21:1244-50. 2016
    ..We observed that rs3744165 × rs8073471 interaction modulated the expression profile of TEAD3 (P=1.87 × 10(-8)), SH3TC2 (P=2.00 × 10(-8)), KCNK9 (P=5.20 × 10(-7)) and PPDPF (P=1.13 × 10(-6)) in postmortem cortex tissue; EFNA1 (P=7...
  10. doi Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, Uniklinik RWTH Aachen, Aachen, Germany Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria Electronic address
    Neuromuscul Disord 26:132-5. 2016
    ..505T > C; p.Y169H in the SH3TC2 gene that was transmitted by the healthy father...
  11. doi [Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C]
    Zhen Yu
    Department of Medical Genetics, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 33:57-60. 2016
    ..To identify potential mutation in a Chinese family affected with Charcot-Marie-Tooth disease(CMT)...
  12. pmc Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C
    Sauparnika Vijay
    Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK
    Biochim Biophys Acta 1862:1279-90. 2016
    ..autosomal recessive inherited peripheral neuropathies and is associated with mutations in the Rab11 effector, SH3TC2. Disruption of the SH3TC2-Rab11 interaction is the molecular abnormality underlying this disease...
  13. doi Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)
    Giuseppe Piscosquito
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 21:142-9. 2016
    Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement...
  14. doi Co-localized genomic regulation of miRNA and mRNA via DNA methylation affects survival in multiple tumor types
    James D Doecke
    Department of Bioinformatics and Computational Biology, Division of Quantitative Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77230, USA Commonwealth Scientific and Industrial Research Organization CSIRO Health and Biosecurity Australian E Health Research Centre, Royal Brisbane and Women s Hospital, Level 5, UQ Health Sciences Building, 901 16, Herston, Queensland 4029, Australia Electronic address
    Cancer Genet 209:463-473. 2016
    ..triplet combinations showing the highest prevalence across tissue types were found in four genes, HOXC5, PDE2A, SH3TC2 and TP63...
  15. pmc SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
    Carina Fischer
    Center for Medical Research, Medical University of Graz, Graz, Austria
    J Neurol 259:515-23. 2012
    ..CMT4C was the most common genetic subtype with mutations detected in SH3TC2, one (p.E632Kfs13X) appearing to be a novel founder mutation...
  16. ncbi [Autosomal recessive forms of Charcot-Marie-Tooth disease]
    Jean Michel Vallat
    Service de Neurologie, CHU Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges, France
    Bull Acad Natl Med 189:55-68; discussion 68-9. 2005
    ..Nerve biopsy and molecular studies can contribute to the diagnosis, but this approach is highly time-consuming and can only be performed in specialized laboratories...
  17. doi High frequency of SH3TC2 mutations in Czech HMSN I patients
    P Lassuthová
    DNA Laboratory, Department of Child Neurology, 2nd Medical School, University Hospital Motol, Prague, Czech Republic
    Clin Genet 80:334-45. 2011
    ..is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene...
  18. doi Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
    ..evoking CMT4C, an autosomal recessive (AR) form of Charcot-Marie-Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or ..
  19. doi BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
    ..giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease...
  20. doi Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene
    Petra Lassuthová
    DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    J Neurogenet 26:413-20. 2012
    ..CMT is genetically very heterogeneous. Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth neuropathy type 4C (CMT4C), a demyelinating form with autosomal recessive ..
  21. doi Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
    T Sevilla
    Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain
    Clin Genet 83:565-70. 2013
    ..R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (..
  22. doi Charcot-Marie-Tooth disease type 4C in Japan: report of a case
    Masahiro Iguchi
    Department of Neurology, Tokyo Women s Medical University School of Medicine, Kawada cho 8 1, Shinjuku ku, Tokyo, Japan
    Muscle Nerve 47:283-6. 2013
    The distribution of documented cases of Charcot-Marie-Tooth disease type 4C (CMT4C) is mainly limited to the Mediterranean region. We report the first documented case of CMT4C in East Asia...
  23. doi Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan
    Makiko Hayashi
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 58:273-8. 2013
    ..We found one patient with a GDAP1 mutation, one patient with an MTMR2 mutation, two patients with SH3TC2/KIAA1985 mutations and three patients with FGD4 mutations...
  24. doi Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
    Estelle Arnaud Gouttenoire
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Glia 61:1041-51. 2013
    Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons...
  25. doi Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes
    Meriem Tazir
    Service de Neurologie, University Hospital Mustapha Bacha, Alger, Algeria
    J Peripher Nerv Syst 18:113-29. 2013
    ..autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, ..
  26. doi Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia
    Dana Gabrikova
    Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Ul 17 Novembra 1, 08116, Presov, Slovakia
    J Appl Genet 54:455-60. 2013
    ..There are three subtypes of autosomal recessive CMT with mutations private to the Roma population: CMT4C, CMT4D and CMT4G...
  27. doi [Current issues in hereditary neuropathies]
    A Lacour
    Clinique neurologique et centre de référence des maladies rares neuromusculaires, Hopital Roger Salengro, CHRU de Lille, Rue Emile Laine, 59037 Lille, France Electronic address
    Rev Neurol (Paris) 169:1001-3. 2013
    ..second study, the clinical and electrophysiological characteristics of 14 patients with CMT4C due to mutations in SH3TC2 gene are described (Yger et al., 2012)...
  28. ncbi Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C
    Carmen Espinos
    CIBER de Enfermedades Raras CIBERER, Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, C Jaume Roig, 11, 46010 Valencia, Spain
    Hum Genet 124:320. 2008
  29. ncbi Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
    Philipp Berger
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Glia 54:243-57. 2006
    ..These networks include the control of myelin formation and stability, membrane trafficking, intracellular protein sorting and quality control, and may extend to mitochondrial dynamics and basic protein biosynthesis...
  30. ncbi Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
    Jaume Colomer
    Servei de Neurologia, Hospital Sant Joan de Deu, Barcelona, Spain
    Neuromuscul Disord 16:449-53. 2006
    ..Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor ..
  31. ncbi Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U679 ex U289, La Pitie Salpetriere Hospital, AP HP, Paris, France
    Neuromolecular Med 8:75-86. 2006
    ..In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis...
  32. ncbi [Molecular genetics of inherited neuropathies]
    Hiroshi Takashima
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
    Rinsho Shinkeigaku 46:1-18. 2006
    ..Since these three proteins share a common pathway, disruption in any of them could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cells...
  33. doi Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
    Isabelle Gosselin
    Laboratoire de neurogénétique de la motricité, Centre d excellence en neuromique de l Université de Montréal, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame CHUM, Montreal, Que, Canada
    Neuromuscul Disord 18:483-92. 2008
    ..06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort. The majority of carrier chromosomes, 26 of 34 (76%), carry the c...
  34. ncbi Identification and characterization of the human serotonin-4 receptor gene promoter
    T Hiroi
    Radioisotope Research Institute, St Marianna University School of Medicine, Kawasaki 216 8511, Japan
    Biochem Biophys Res Commun 289:337-44. 2001
    ..In addition, untranslated exon 1 contained negative (+112 to +182) as well as positive (+1 to +111) modulators, indicating that exon 1 plays a regulatory role in the 5-HT(4) receptor gene expression...
  35. pmc HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project
    Reiko Kikuno
    Kazusa DNA Research Institute, 1532 3 Yana, Kisarazu, Chiba 292 0812, Japan
    Nucleic Acids Res 30:166-8. 2002
    ..More interestingly, in some cases, the ability to compare cDNA with genomic sequences allows us to identify candidate sites of RNA editing. HUGE is available on the World Wide Web at http://www.kazusa.or.jp/huge...
  36. ncbi The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C
    Michiaki Nagura
    Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo 113 8655, Japan
    Int J Mol Med 11:45-7. 2003
    Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33...
  37. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology...
  38. ncbi Autosomal recessive forms of Charcot-Marie-Tooth disease
    J M Vallat
    Service de Neurologie, CHU Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges Cedex, France
    Curr Neurol Neurosci Rep 4:413-9. 2004
    ..There is, therefore, an indication for nerve biopsy to orient diagnostic research in molecular biology, which is presently very time consuming and can only be performed in highly specialized laboratories...
  39. ncbi Clinicopathological and genetic study of early-onset demyelinating neuropathy
    Yesim Parman
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Millet Cad, Capa, 34390 Istanbul, Turkey
    Brain 127:2540-50. 2004
    ..We did not discern a specific pattern of histopathology that could be correlated to mutations in a particular gene...
  40. ncbi Autosomal-recessive Charcot-Marie-Tooth diseases
    Jean Michel Vallat
    Neurology Department, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, France
    J Neuropathol Exp Neurol 64:363-70. 2005
    ..Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered...
  41. pmc A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
    R Gooding
    Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia
    J Med Genet 42:e69. 2005
    ..Arg1109X, in the CMT4C gene. The screening of further unrelated patients, and of a panel of ethnically matched controls, showed that p...
  42. ncbi Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
    H Azzedine
    INSERM U679 ex U289, Neurology and Experimental Therapeutics, La Pitie Salpetriere Hospital, Paris, France
    Neurology 67:602-6. 2006
    ..Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin.
  43. ncbi The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
    R Claramunt
    Instituto de Biomedicina, Consejo Superior de Investigaciones Cientificas, Valencia, Spain
    Clin Genet 71:343-9. 2007
    ..that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p...
  44. ncbi Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warszawa, Poland
    Clin Neuropathol 27:1-12. 2008
    ..In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders...
  45. doi Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays
    Li Wang
    LRF Molecular Haematology Unit, Nuffield Department of Clinical, Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Haematologica 93:994-1000. 2008
    ..Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation analysis...
  46. pmc Genetic spectrum of hereditary neuropathies with onset in the first year of life
    Jonathan Baets
    Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Brain 134:2664-76. 2011
    ..sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed...
  47. doi Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
    Jean Michel Vallat
    Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France
    J Neuropathol Exp Neurol 67:1097-102. 2008
    ..genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA...
  48. doi Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
    ..The chromosome 5 breakpoint lies at the 3' end of the SH3TC2 gene and distal to beta-adrenergic receptor gene ADRB2 and serotonin receptor gene HTR4...
  49. doi The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
    Henry Houlden
    Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
    Neuromuscul Disord 19:264-9. 2009
    ..for CMT4C was previously assigned to the chromosome 5q23 region by homozygosity mapping and mutations in the SH3TC2 (KIAA1985) gene have been subsequently identified mainly in families around the Mediterranean basin but also ..
  50. ncbi [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]
    Benoit Funalot
    Service de Neurologie et Centre de Référence des Neuropathies périphériques rares, CHU Dupuytren, Limoges, France
    Bull Acad Natl Med 193:151-60; discussion 160-1. 2009
    ..sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4 and LMNA. This may also be true of MFN2-related neuropathies.
  51. doi Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
    Vincenzo Lupo
    Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia IBV, CSIC, Valencia 46010, Spain
    Hum Mol Genet 18:4603-14. 2009
    Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis...
  52. pmc SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
    Estelle Arnaud
    Department of Medical Genetics, University of Lausanne, CH 1005 Lausanne, Switzerland
    Proc Natl Acad Sci U S A 106:17528-33. 2009
    ..The gene mutated in CMT4C disease, SH3TC2/KIAA1985, was recently identified; however, the function of the protein it encodes remains unknown...
  53. ncbi Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family
    Nilufer Sahin-Calapoğlu
    Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey
    Int J Neurosci 119:1179-89. 2009
    ..study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease ..
  54. pmc Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
    Rhys C Roberts
    Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
    Hum Mol Genet 19:1009-18. 2010
    Mutations in the functionally uncharacterized protein SH3TC2 are associated with the severe hereditary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C)...
  55. pmc Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    N Engl J Med 362:1181-91. 2010
    ..We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease...
  56. ncbi Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    E LeGuern
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Hum Mol Genet 5:1685-8. 1996
    ..Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval...
  57. doi SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
    Claudia Stendel
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Brain 133:2462-74. 2010
    Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination...

Research Grants1

  1. MOLECULAR STUDIES IN C/M/T DISEASE TYPE 4 B AND C
    Kamel Ben Othmane; Fiscal Year: 2001
    ..Subsequently, we have shown that CMT4B and CMT4C do not map to this chromosomal region...