A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b.
10.3346/jkms.2005.20.3.499
- Author:
Sung Hee HAN
1
;
Chang Seok KI
;
Ji Eun LEE
;
Young Jin HONG
;
Byong Kwan SON
;
Kyung Hee LEE
;
Yon Ho CHOE
;
Soo Youn LEE
;
Jong Won KIM
Author Information
1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. jwonk@smc.samsung.co.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Glycogen Storage Disease;
Glycogen Storage Disease Type 1;
GSD-1b;
Genes;
SLC37A4 Gene;
Mutation
- MeSH:
Base Sequence;
DNA/chemistry/genetics;
DNA Mutational Analysis;
Glycogen Storage Disease Type I/enzymology/*genetics;
Humans;
Korea;
*Mutation, Missense;
Phosphotransferases/*genetics;
Research Support, Non-U.S. Gov't
- From:Journal of Korean Medical Science
2005;20(3):499-501
- CountryRepublic of Korea
- Language:English
-
Abstract:
We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia and inflammatory bowel disease. Mutation analysis of the glucose 6-phosphate translocase 6-phosphate translocase (SLC37A4) gene revealed that the patient was a compound heterozygote of two different mutations including a deletion mutation (c.1042_1043delCT; L348fs) and a missense mutation (A148V). The L348fs mutation was inherited from the patient's father and has been reported in an Italian family with GSD-1b, while the A148V mutation was transmitted from the patient's mother and was a novel mutation. To the best of our knowledge, this is the first report of genetically confirmed case of GSD-1b in Korean.
