A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome
Journal
Journal of Human Genetics
Journal Volume
55
Journal Issue
3
Pages
186-188
Date Issued
2010
Author(s)
Abstract
Andersen-Tawil syndrome (ATS) is a rare familial potassium channelopathy characterized by the clinical triad of periodic paralysis, cardiac arrhythmia and dysmorphic facial/skeletal features. The majority of ATS patients are caused by mutations of the KCNJ2 gene, which encodes the inward-rectifying potassium channel protein Kir2.1. However, the effects of the KCNJ2 mutation on the central nervous system are rarely studied. In this report, we describe a heterozygous missense mutation (p.Thr192Ile) in the KCNJ2 gene, which segregates with the disease phenotype in an ATS family. It is noted that in addition to the classical clinical phenotypes of ATS, the index patient exhibited major depression and pyramidal tract signs with diffuse periventricular white matter lesions without contrast enhancement. This mutation and the unusual clinical manifestations observed underscore the phenotypic complexity underlying ATS. Our observations expand the current knowledge of the phenotypic variability of ATS caused by the KCNJ2 mutation. Patients with ATS, especially those carrying the KCNJ2 mutations, should be monitored for their potential neuropsychiatric system involvement. ? 2010 The Japan Society of Human Genetics All rights reserved.
SDGs
Other Subjects
inwardly rectifying potassium channel subunit Kir2.1; inwardly rectifying potassium channel; KCNJ2 protein, human; adult; Andersen syndrome; article; brain damage; case report; contrast enhancement; diagnostic and statistical manual of mental disorders; face dysmorphia; female; heart arrhythmia; heterozygote; human; major depression; missense mutation; neurologic examination; neuropsychiatry; nuclear magnetic resonance imaging; periodic paralysis; phenotype; pyramidal sign; quadriplegia; skeleton malformation; Taiwan; amino acid sequence; Andersen syndrome; chemistry; family; genetics; male; molecular genetics; mutation; nucleotide sequence; pathology; pedigree; Adult; Amino Acid Sequence; Andersen Syndrome; Base Sequence; DNA Mutational Analysis; Family; Female; Humans; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Potassium Channels, Inwardly Rectifying; Taiwan
Publisher
Nature Publishing Group
Type
journal article