Mutation analysis of GCDH gene in four patients with glutaric academia type I.
- VernacularTitle:四例戊二酸血症Ⅰ型患儿GCDH基因的突变研究
- Author:
Qi LIU
1
;
Yiping CHEN
;
Wei CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Metabolism, Inborn Errors; diagnostic imaging; enzymology; genetics; Amino Acid Sequence; Asian Continental Ancestry Group; genetics; Base Sequence; Brain Diseases, Metabolic; diagnostic imaging; enzymology; genetics; DNA Mutational Analysis; Exons; Female; Glutaryl-CoA Dehydrogenase; chemistry; deficiency; genetics; metabolism; Humans; Infant; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Point Mutation; Radiography; Sequence Alignment
- From: Chinese Journal of Medical Genetics 2015;32(2):187-191
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.
METHODSAll of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.
RESULTSMutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.
CONCLUSIONIVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.
