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
in Chinese
| WPRIM
| ID: wpr-776784
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain Diseases, Metabolic
/
Glutaryl-CoA Dehydrogenase
/
Genetics
/
Amino Acid Metabolism, Inborn Errors
/
Heterozygote
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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