Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa.
- Author:
Li GUO
1
;
Weixia LIN
;
Zhanhui ZHANG
;
Xinjing ZHAO
;
Sui ZHANG
;
Xiangran CAI
;
Qing ZHOU
;
Yuanzong SONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child, Preschool; China; Female; Glycogen Debranching Enzyme System; genetics; metabolism; Glycogen Storage Disease Type III; enzymology; genetics; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation
- From: Chinese Journal of Medical Genetics 2015;32(4):502-505
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).
METHODSClinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.
RESULTSThe genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.
CONCLUSIONBased on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.
