Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ.
- Author:
Yiying LI
1
;
Shiyue MEI
;
Xiangdong KONG
;
Zhenhua ZHAO
;
Xiaofan ZHU
;
Xinyu YANG
;
Zhi QIN
;
Han WU
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child; DNA Mutational Analysis; methods; Family Health; Female; Genetic Predisposition to Disease; genetics; Glycoproteins; genetics; metabolism; Heterozygote; Humans; Iduronate Sulfatase; genetics; metabolism; Male; Mothers; Mucopolysaccharidosis II; diagnosis; enzymology; genetics; Mutation
- From: Chinese Journal of Medical Genetics 2017;34(1):58-60
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).
METHODSFor the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing.
RESULTSA novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous.
CONCLUSIONThe c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.
