[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].

Abstract

OBJECTIVE:

To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.

METHODS:

PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.

RESULTS:

A 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.

CONCLUSIONS:

G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.

• Authors: Yan Wang, Hong-Lin Wu, Zhen-Lan Du, Xin Liu, Hao Li, Xi-Yu He, Chun-Zhi Wang
• Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (Zhongguo Dang Dai Er Ke Za Zhi) Vol. 14 Issue 11 Pg. 856-8 (Nov 2012) ISSN: 1008-8830 [Print] China
• PMID: 23146735 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Glucose-6-Phosphatase

Topics

• Child, Preschool
• Glucose-6-Phosphatase (genetics)
• Glycogen Storage Disease Type I (genetics)
• Humans
• Male
• Mutation
• Sequence Analysis, DNA