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Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac, Mihaela; Tian, Xia; Chu, Jordan; Wang, Guoli; Feng, Yanming; Chen, Stella; Fenter, Remington; Zhang, Victor W; Wang, Jing; Watkins, David; Wong, Lee-Jun; Rosenblatt, David S.
Afiliación
  • Pupavac M; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Tian X; Baylor Miraca Genetics Laboratories, Houston, TX, United States.
  • Chu J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Wang G; Baylor Miraca Genetics Laboratories, Houston, TX, United States.
  • Feng Y; Baylor Miraca Genetics Laboratories, Houston, TX, United States.
  • Chen S; Baylor Miraca Genetics Laboratories, Houston, TX, United States.
  • Fenter R; Baylor Miraca Genetics Laboratories, Houston, TX, United States.
  • Zhang VW; Baylor Miraca Genetics Laboratories, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Wang J; Baylor Miraca Genetics Laboratories, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Watkins D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Wong LJ; Baylor Miraca Genetics Laboratories, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: david.rosenblatt@mcgill.ca.
Mol Genet Metab ; 117(3): 363-8, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26827111
Next generation sequencing (NGS) based gene panel testing is increasingly available as a molecular diagnostic approach for inborn errors of metabolism. Over the past 40 years patients have been referred to the Vitamin B12 Clinical Research Laboratory at McGill University for diagnosis of inborn errors of cobalamin metabolism by functional studies in cultured fibroblasts. DNA samples from patients in which no diagnosis was made by these studies were tested by a NGS gene panel to determine whether any molecular diagnoses could be made. 131 DNA samples from patients with elevated methylmalonic acid and no diagnosis following functional studies of cobalamin metabolism were analyzed using the 24 gene extended cobalamin metabolism NGS based panel developed by Baylor Miraca Genetics Laboratories. Gene panel testing identified two or more variants in a single gene in 16/131 patients. Eight patients had pathogenic findings, one had a finding of uncertain significance, and seven had benign findings. Of the patients with pathogenic findings, five had mutations in ACSF3, two in SUCLG1 and one in TCN2. Thus, the NGS gene panel allowed for the presumptive diagnosis of 8 additional patients for which a diagnosis was not made by the functional assays.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Complejo Vitamínico B / Deficiencia de Vitamina B 12 / Errores Innatos del Metabolismo / Ácido Metilmalónico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2016 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Complejo Vitamínico B / Deficiencia de Vitamina B 12 / Errores Innatos del Metabolismo / Ácido Metilmalónico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2016 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos