Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 882-885, 2019.
Article
em Zh
| WPRIM
| ID: wpr-776784
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ.@*METHODS@#GCDH gene variants was detected by Sanger sequencing among the three children and their family members.@*RESULTS@#Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c.532G>A (p.Gly178Arg) and c.655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg) and c.655G>A (p.Ala219Thr) variants. Patient 2 carried c.532G>A (p.Gly178Arg) and a novel c.1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c.532G>A (p.Gly178Arg) and c.1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c.532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers.@*CONCLUSION@#The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.
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Índice:
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Assunto principal:
Encefalopatias Metabólicas
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Glutaril-CoA Desidrogenase
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Genética
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Erros Inatos do Metabolismo dos Aminoácidos
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Heterozigoto
Limite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article