Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ.
10.3760/cma.j.issn.1003-9406.2019.09.007
- VernacularTitle:三例戊二酸血症Ⅰ型患儿的临床特点及GCDH基因变异分析
- Author:
Jianqiang TAN
1
;
Dayu CHEN
;
Tizhen YAN
;
Jun HUANG
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China. lzcairen@126.com.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors;
genetics;
Brain Diseases, Metabolic;
genetics;
Female;
Glutaryl-CoA Dehydrogenase;
deficiency;
genetics;
Heterozygote;
Humans;
Male
- From:
Chinese Journal of Medical Genetics
2019;36(9):882-885
- CountryChina
- Language:Chinese
-
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.
