- VernacularTitle:八例戊二酸尿症Ⅰ型患者的GCDH基因突变分析
- Author:
Jing CHEN
1
;
Zhao-xia WANG
;
Jin-li ZHANG
;
Yan-ling YANG
;
Jing CHEN
;
Yi-ning HUANG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Amino Acid Metabolism, Inborn Errors; enzymology; genetics; Amino Acid Sequence; Animals; Base Sequence; Brain Diseases, Metabolic; enzymology; genetics; DNA Mutational Analysis; Exons; genetics; Female; Glutaryl-CoA Dehydrogenase; chemistry; deficiency; genetics; Humans; Infant; Male; Molecular Sequence Data
- From: Chinese Journal of Medical Genetics 2011;28(4):374-378
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutations of glutaryl-CoA dehydrogenase (GCDH) gene in patients with glutaric aciduria type I(GA-1).
METHODSGenomic DNA was extracted from peripheral blood cells of the eight probands with GA-1 who were diagnosed by urine and blood analyses. By PCR and direct sequencing, all 11 exons and their flanking sequences of the GCDH gene were examined. Mutation search was also performed in some of their family members.
RESULTSAmong the eight patients diagnosed by metabolic screening, seven patients belonged to classical infantile-onset. One patient, however, was adult-onset, who was admitted to the hospital because of suffering from ischemic cerebral stroke. The GCDH gene mutations were identified in all the eight probands with GA-1: five of them had compound heterozygous mutations, while the other three harbored only one heterozygous mutation. Totally, nine different mutations of the GCDH gene were identified in the eight probands, four of them were novel, i.e., c.148T>C, c.371G>A, 909delC and c.263G>A.
CONCLUSIONGCDH gene mutations are identified in 8 patients with GA-1 in mainland China, including one adult patient with late onset. Four novel mutations of GCDH gene are found which expanded the mutational spectrum of the GCDH gene.