Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa.
- Author:
Yan WANG
1
;
Hong-Lin WU
;
Zhen-Lan DU
;
Xin LIU
;
Hao LI
;
Xi-Yu HE
;
Chun-Zhi WANG
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Glucose-6-Phosphatase; genetics; Glycogen Storage Disease Type I; genetics; Humans; Male; Mutation; Sequence Analysis, DNA
- From: Chinese Journal of Contemporary Pediatrics 2012;14(11):856-858
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.
METHODSPCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.
RESULTSA heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.
CONCLUSIONSG222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.
