Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 796-799, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-775835
ABSTRACT
OBJECTIVE@#To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes.@*METHODS@#Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing.@*RESULTS@#The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic.@*CONCLUSION@#Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encefalopatías Metabólicas
/
Análisis Mutacional de ADN
/
China
/
Diagnóstico
/
Glutaril-CoA Deshidrogenasa
/
Genética
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
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