Fernando Scaglia

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. doi request reprint Nuclear gene defects in mitochondrial disorders
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Methods Mol Biol 837:17-34. 2012
  2. doi request reprint Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, United States
    Mol Genet Metab 101:282-5. 2010
  3. pmc Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
    William J Craigen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 14:83. 2013
  4. pmc Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 33:165-79. 2012
  5. pmc Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
  6. doi request reprint Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
    Neil A Hanchard
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 103:262-7. 2011
  7. ncbi request reprint Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
    Fang Yuan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:E1632-51. 2010
  8. doi request reprint Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:573-86. 2010
  9. doi request reprint Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    Lee Jun C Wong
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 54:1141-8. 2008
  10. doi request reprint POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
    Mir Reza Bekheirnia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Gene 499:209-12. 2012

Detail Information

Publications46

  1. doi request reprint Nuclear gene defects in mitochondrial disorders
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Methods Mol Biol 837:17-34. 2012
    ..This increased awareness has added a challenging dimension to the current diagnostic workup of mitochondrial cytopathies. The advent of new technologies such as next-generation sequencing should facilitate the resolution of this dilemma...
  2. doi request reprint Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, United States
    Mol Genet Metab 101:282-5. 2010
    ....
  3. pmc Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
    William J Craigen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 14:83. 2013
    ....
  4. pmc Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 33:165-79. 2012
    ..21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers...
  5. pmc Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
    ..The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle...
  6. doi request reprint Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
    Neil A Hanchard
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 103:262-7. 2011
    ..This report highlights hepatocerebral mtDNA depletion in the differential of neonatal tyrosinemia, advocates considering dGK deficiency in cases of NH, and posits mitochondrial oxidative processes in the pathogenesis of NH...
  7. ncbi request reprint Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
    Fang Yuan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:E1632-51. 2010
    ..680G>A (p.R227H) mutation. Thus, copy number abnormalities at the OCTN2 locus should be considered if by sequencing, an apparently homozygous mutation or only one mutant allele is identified...
  8. doi request reprint Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:573-86. 2010
    ..To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements...
  9. doi request reprint Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    Lee Jun C Wong
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 54:1141-8. 2008
    ..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number...
  10. doi request reprint POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
    Mir Reza Bekheirnia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Gene 499:209-12. 2012
    ....
  11. doi request reprint Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
    Gary Fruhman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 103:153-60. 2011
    ..This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations...
  12. doi request reprint Dilation of the aortic root in mitochondrial disease patients
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Genet Metab 103:167-70. 2011
    ..The mechanism(s) involved in the pathogenesis of this complication are unknown and may be potentially implicated also in the pathogenesis of other more common etiologies of aortic aneurysmal disease...
  13. doi request reprint Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 103:383-7. 2011
    ..This example expands the clinical phenotype of OPA1-associated disorders and provides additional evidence for semi-dominant inheritance...
  14. pmc Phenotypic manifestations of copy number variation in chromosome 16p13.11
    Sandesh C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 19:280-6. 2011
    ..Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance...
  15. pmc Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 40:1466-71. 2008
    ..These phenotypes are subject to incomplete penetrance and variable expressivity...
  16. doi request reprint Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects
    Sha Tang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 34:882-93. 2013
    ..Additionally, NGS provides accurate, sensitive heteroplasmy measurement, and the ability to map deletion breakpoints. A new era of more efficient molecular diagnosis of mtDNA mutations has arrived...
  17. pmc Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
    Joanna Wiszniewska
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 22:79-87. 2014
    ..Thus, combining SNP probes and exon-targeted array CGH into one platform provides clinically useful genetic screening in an efficient manner...
  18. doi request reprint Citrin deficiency, a perplexing global disorder
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Mol Genet Metab 96:44-9. 2009
    ..The finding of citrin mutations in patients of Arabic, Pakistani, French Canadian and Northern European origins supports the concept that citrin deficiency is a panethnic disease...
  19. doi request reprint The role of mitochondrial dysfunction in psychiatric disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin, Houston, TX 77030, USA
    Dev Disabil Res Rev 16:136-43. 2010
    ....
  20. pmc Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients
    Juan C Marini
    US Department of Agriculture Agricultural Research Service Children s Nutrition Research Center, Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Clin Nutr 93:1248-54. 2011
    ....
  21. doi request reprint Current molecular diagnostic algorithm for mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:111-7. 2010
    ..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling...
  22. pmc Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX 77030, USA
    Hum Genet 126:589-602. 2009
    ....
  23. doi request reprint The Xp contiguous deletion syndrome and autism
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 149:1138-48. 2009
    ..Our findings suggest that the severity and the variability of the clinical findings are determined by the size and the parental origin of the deletions as well as the X-inactivation status...
  24. pmc Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism
    Ayelet Erez
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 88:402-21. 2011
    ..We provide an overview from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these specific metabolic pathways might contribute to the mechanisms of cancer development and treatment...
  25. doi request reprint Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1597-604. 2011
    ..We compare the phenotype of our patient with previously reported cases...
  26. doi request reprint Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
    Sirisak Chanprasert
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 110:153-61. 2013
    ..Clinically, hypotonia and proximal muscle weakness are the major phenotypes present in all subjects. In summary, our study expands the molecular and clinical spectrum associated with TK2 deficiency. ..
  27. ncbi request reprint Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Arch Neurol 62:317-20. 2005
    ..Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures...
  28. ncbi request reprint Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital corrected Houston, TX 77030, USA
    AJNR Am J Neuroradiol 26:1675-80. 2005
    ..Here we report the neuroradiologic findings of predominant cerebellar volume loss in children with various mitochondrial disorders...
  29. pmc Detection of clinically relevant exonic copy-number changes by array CGH
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:1326-42. 2010
    ..In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes...
  30. ncbi request reprint Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 8:641-52. 2006
    ....
  31. doi request reprint Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
    David P Dimmock
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Liver Transpl 14:1480-5. 2008
    ..Conversely, in the absence of these neurological features, liver transplantation may be considered a potential treatment...
  32. pmc Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty
    Shweta U Dhar
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:993-6. 2009
    ..Our report further emphasizes the need to exclude any type of abnormalities of chromosome 13 in patients with phylloid hypopigmentation...
  33. pmc Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy
    Kala Y Kamdar
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Cancer Center, Houston, TX, USA
    Pediatr Blood Cancer 57:454-60. 2011
    ..We evaluated the relationship between folate pathway polymorphisms and neurocognitive impairment after childhood ALL chemotherapy...
  34. pmc Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2
    Melissa B Ramocki
    Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1574-80. 2011
    ..In addition, an individual with a complex rearrangement of chromosome 22q13.3 and RES was identified, suggesting the presence of a dosage-sensitive gene that may contribute to RES in this region...
  35. doi request reprint Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis
    Lakshmi Venkateswaran
    Department of Hematology Oncology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030 2399, USA
    Pediatr Blood Cancer 53:100-2. 2009
    ..Careful normalization of plasma arginine and citrulline levels and increased surveillance for thrombotic complications should be considered in patients with OTC deficiency...
  36. ncbi request reprint Human mitochondrial transfer RNAs: role of pathogenic mutation in disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Muscle Nerve 37:150-71. 2008
    ..We also provide readers with an overview of a large variety of mechanisms by which mutations may affect the mitochondrial translation machinery and cause disease...
  37. pmc Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 149:1661-77. 2009
    ..1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm...
  38. doi request reprint Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:19-24. 2010
    ..We report five families in which low free carnitine levels in the infants' newborn screening have led to the diagnosis of maternal systemic primary carnitine deficiency...
  39. pmc Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 14:868-76. 2012
    ..A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype-phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking...
  40. doi request reprint New insights in nutritional management and amino acid supplementation in urea cycle disorders
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:S72-6. 2010
    ....
  41. ncbi request reprint Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 8:784-92. 2006
    ..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome...
  42. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
    ..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features...
  43. ncbi request reprint Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
    Paolo Moretti
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Autism Dev Disord 38:1170-7. 2008
    ..These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities...
  44. ncbi request reprint The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    CNS Drugs 20:443-64. 2006
    ..Current approaches to the treatment of the MELAS syndrome are based on the use of antioxidants, respiratory chain substrates and cofactors in the form of vitamins; however, no consistent benefits have been observed with these treatments...
  45. ncbi request reprint Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1
    Motoaki Sano
    Center for Cardiovascular Development, Baylor College of Medicine, Houston, TX 77030, USA
    Cell Metab 5:129-42. 2007
    ..PGC-1 bound to both MAT1 and Cdk7 in coprecipitation assays. Thus, we demonstrate a requirement for MAT1 in the operation of PGC-1 coactivators that control cell metabolism...
  46. ncbi request reprint Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Pediatrics 119:e773-7. 2007
    ....