A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.

H. Yamagishi, M. Furutani, M. Kamisago, Y. Morikawa, Y. Kojima, Y. Hino, Y. Furutani, M. Kimura, S. Imamura, A. Takao, K. Momma, R. Matsuoka

研究成果: Article査読

17 被引用数 (Scopus)

抄録

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 1612, 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 nova mutation in SCN5A associated with LQTS.

本文言語English
ページ数1
ジャーナルHuman mutation
11
6
DOI
出版ステータスPublished - 1998

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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