A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b

Title
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b
Authors
Han, S.H.; Ki, C.S.; Lee, J.E.; Hong, Y.J.; Son, B.K.; Lee, K.H.; Choe, Y.H.; Lee, S.Y.; Kim, J.W.
Keywords
glycogen storage disease, SLC37A4 gene, GSD-1b, glycogen storage disease type 1
Issue Date
2005-06
Publisher
KOREAN ACAD MEDICAL SCIENCES
Abstract
We report a Korean patient with glycogen storage disease type 1b (GSID-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.
URI
http://dspace.inha.ac.kr/handle/10505/1975
ISSN
1011-8934
Appears in Collections:
Medical School/College of Medicine (의학전문대학원/의과대학) > Medical Science (의학) > Journal Papers, Reports(의학 논문, 보고서)
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