Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome.
- VernacularTitle:一个Andersen-Tawil综合征家系的临床表型及KCNJ2基因突变分析
- Author:
Huihui SUN
1
;
Naijun WAN
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(5):675-678
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.
METHODSClinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. The exome of the proband was screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected mutations were subjected to bioinformatic and gene-disease correlation analysis.
RESULTSA c.653G>A (p.R218Q) mutation of the KCNJ2 gene was detected in both the proband and his father. Bioinformatics analysis suggested it to be pathogenic.
CONCLUSIONThe clinical manifestation of the pedigree was suggestive of Andersen-Tawil syndrome. KCNJ2 c.653G>A (p.R218Q) was the pathogenic mutation in this pedigree.
