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
- Publication Type:Journal Article
- Keywords:
Glutaric aciduria type Ⅰ;
Glutaryl-CoA dehydrogenase;
Inborn error of metabolism;
GCDH gene
- 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.
