Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes

evidence for variable hearing phenotype associated with R518X.

J. Wei, F. A. Fish, Robert J Myerburg, D. M. Roden, A. L. George

Research output: Contribution to journalArticle

25 Citations (Scopus)

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
Pages (from-to)387-388
Number of pages2
JournalHuman Mutation
Volume15
Issue number4
StatePublished - Apr 1 2000

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Jervell-Lange Nielsen Syndrome
Long QT Syndrome
Romano-Ward Syndrome
Hearing
Alleles
Deafness
Phenotype
Mutation
Frameshift Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes : evidence for variable hearing phenotype associated with R518X. / Wei, J.; Fish, F. A.; Myerburg, Robert J; Roden, D. M.; George, A. L.

In: Human Mutation, Vol. 15, No. 4, 01.04.2000, p. 387-388.

Research output: Contribution to journalArticle

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