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A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome
Author(s) -
Yamagishi Hiroyuki,
Furutani Michiko,
Kamisago Mitsuhiro,
Morikawa Yoshiyuki,
Kojima Yoshifumi,
Hino Yoshiaki,
Furutani Yoshiyuki,
Kimura Misa,
Imamura Shinichiro,
Takao Atsuyoshi,
Momma Kazuo,
Matsuoka Rumiko
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:6<481::aid-humu12>3.0.co;2-q
Subject(s) - missense mutation , biology , genetics , girl , mutation , long qt syndrome , gene , medicine , qt interval
Two missense mutations and a nine‐nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in several familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase chain reaction, single‐strand conformation polymorphism analysis and DNA sequence analysis to identify a mutation of the SCN5A gene in the patient. A single nucleotide substitution of guanine to adenine, in codon 1623, changed the coding sense of the SCN5A from arginine to glutamine (R1623Q) in the S4 segment of domain IV which is a highly conserved region of the SCN5A. This mutation was not identified in the unaffected biological parents and brother of the patient, and 100 normal, unrelated individuals. This finding is the first evidence of a de novo mutation in SCN5A associated with LQTS. Hum Mutat 11:481, 1998. © 1998 Wiley‐Liss, Inc.