Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A.
- VernacularTitle:一例黏多糖贮积症ⅣA型患儿的临床特点及GALNS基因突变分析
- Author:
Qiong CHEN
1
;
Yongxing CHEN
;
Xiaojing LIU
;
Haiyan WEI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Child; Child, Preschool; Chondroitinsulfatases; genetics; Female; Humans; Male; Molecular Sequence Data; Mucopolysaccharidosis IV; enzymology; genetics; Point Mutation
- From: Chinese Journal of Medical Genetics 2017;34(2):232-235
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome).
METHODSThe patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing.
RESULTSThe patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction. The activities of GALNS enzymes were low. A compound heterozygous missense mutation, c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met), was detected in the GALNS gene. The mutations were respectively inherited from her father and mother. Among them, the c.1094G>T (p.Gly365Val) mutation was not reported previously.
CONCLUSIONThe mutations c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.
