Original Article
Detection of GCDH mutations in five Chinese patients with glutaric acidemia type Ⅰ
Yiming Lin, Mingya Han, Zhenzhu Zheng, Weihua Lin, Ke Yu, Qingliu Fu
Published 2018-02-10
Cite as Chin J Med Genet, 2018, 35(1): 39-42. DOI: 10.3760/cma.j.issn.1003-9406.2018.01.008
Abstract
ObjectiveTo detect potential mutations of GCDH gene in five patients with glutaric acidemia type Ⅰ (GA-Ⅰ).
MethodsGenomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing.
ResultsFour mutations of the GCDH gene were identified among the patients, which included c. 532G>A (p.G178R), c. 533G>A (p.G178E), c. 106_107delAC (p.Q37fs*5) and c. 1244-2A>C. Among these, c. 1244-2A>C was the most common, while c. 106_107delAC was a novel mutation, which was predicted to be pathogenic by MutationTaster software.
ConclusionThe diagnosis of GA-Ⅰ has been confirmed in all of the five patients. Identification of the novel GCDH mutations has enriched the mutational spectrum of the GCDH gene.
Key words:
Glutaric acidemia type Ⅰ; GCDH gene; Mutation
Contributor Information
Yiming Lin
Neonatal Disease Screening Center of Quanzhou City, Quanzhou Women and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
Mingya Han
Hangzhou Bio-San Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang 310007, China
Zhenzhu Zheng
Neonatal Disease Screening Center of Quanzhou City, Quanzhou Women and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
Weihua Lin
Neonatal Disease Screening Center of Quanzhou City, Quanzhou Women and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
Ke Yu
Hangzhou Bio-San Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang 310007, China
Qingliu Fu
Neonatal Disease Screening Center of Quanzhou City, Quanzhou Women and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
