Gene mutations and clinical manifestations in children with glycogen storage disease type Ib.
- Author:
Cui-Li LIANG
1
;
Li LIU
;
Hui-Ying SHENG
;
Min-Yan JIANG
;
Xi YIN
;
Hui-Fen MEI
;
Jing CHENG
;
Wen ZHANG
;
Li-Ping FAN
Author Information
- Publication Type:Journal Article
- MeSH: Antiporters; genetics; Child, Preschool; Female; Glycogen Storage Disease Type I; complications; genetics; Humans; Infant; Male; Monosaccharide Transport Proteins; genetics; Mutation; Sequence Analysis, DNA
- From: Chinese Journal of Contemporary Pediatrics 2013;15(8):661-665
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEGlycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze SLC37A4 gene mutations in Chinese GSDIb patients and to investigate the relationship between its genotypes and clinical manifestations.
METHODSAll exons and their flanking introns of SLC37A4 gene in 28 Chinese children with a primary diagnosis of GSDIb were screened by PCR combined with direct DNA sequencing to detect SLC37A4 gene mutations.
RESULTSFive SLC37A4 gene mutations were detected in 7 (25%) of the 28 children, i.e., p.Gly149Glu (9/13, 69%), p.Gly115Arg (1/13, 8%), p.Pro191Leu (1/13, 8%), c.959-960 insT (1/13, 8%) and c.870+5G>A (1/13, 8%).
CONCLUSIONSIn this study, c.959-960 insT is a novel mutation and p.Gly149Glu is the most common mutation. p.Gly149Glu may be associated with severe infections in children with GSDIb.
