Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita.
- Author:
Zhi-ting CHEN
1
;
Jin HE
;
Wan-jin CHEN
;
Sheng-gen CHEN
;
Ji-lan LIN
;
Qin-yong YE
;
Hua-pin HUANG
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Base Sequence; Chloride Channels; genetics; Exons; Heterozygote; Humans; Male; Mutation; Myotonia Congenita; diagnosis; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2012;29(6):690-692
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.
METHODSClinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.
RESULTSThe proband from the affected family was found to carry a c.1024G>A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c.1292C>T heterozygous missense mutation in exon 11.
CONCLUSIONDetection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.
