Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: Evidence for variable hearing phenotype associated with R518X

Jian Wei, Frank A. Fish, Robert J. Myerburg, Dan M. Roden, Alfred L. George

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Congenital long QT syndrome may be transmitted as either an autosomal dominant or recessive trait. Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. Two different novel frameshift mutations were discovered in one of the JLNS families (1188delC) and in the RWS family (504delG). A third allele (R518X) was observed in the second JLNS family. The R518X allele was previously associated with recessive long QT syndrome without deafness, but was present in a congenitally deaf proband in our study. These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.

Original languageEnglish (US)
Pages (from-to)387-388
Number of pages2
JournalHuman mutation
Volume15
Issue number4
DOIs
StatePublished - Apr 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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