Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Lipids Health Dis
; 16(1): 185, 2017 Sep 26.
Article
em En
| MEDLINE
| ID: mdl-28950901
ABSTRACT
BACKGROUND:
Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient.METHODS:
In this study, we described the clinical and biochemical manifestations of a 23-year-old female Chinese patient with late-onset GA II, and performed genomic DNA-based PCR amplifications and sequence analysis of ETFDH gene of the whole pedigree. We also used in-silicon tools to analyze the mutation and evaluated the pathogenicity of the mutation according to the criteria proposed by American College of Medical Genetics and Genomics (ACMG).RESULTS:
The muscle biopsy of this patient revealed lipid storage myopathy. Blood biochemical test and urine organic acid analyses were consistent with GA II. Direct sequence analysis of the ETFDH gene (NM_004453) revealed compound heterozygous mutations c.250G > A (p.A84T) on exon 3 and c.920C > G (p.S307C) on exon 8. Both mutations were classified as "pathogenic" according to ACMG criteria.CONCLUSIONS:
In conclusion, our study described the phenotype and genotype of a late-onset GA II patient, reiterating the importance of ETFDH gene screening in these patients.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Flavoproteínas Transferidoras de Elétrons
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Deficiência Múltipla de Acil Coenzima A Desidrogenase
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Estudos de Associação Genética
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Oxirredutases atuantes sobre Doadores de Grupo CH-NH
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Heterozigoto
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Proteínas Ferro-Enxofre
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article