Premium
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X
Author(s) -
Wei Jian,
Fish Frank A.,
Myerburg Robert J.,
Roden Dan M.,
George Alfred L.
Publication year - 2000
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(200004)15:4<387::aid-humu26>3.0.co;2-t
Subject(s) - frameshift mutation , proband , genetics , biology , long qt syndrome , allele , phenotype , mutation , hearing loss , qt interval , gene , medicine , audiology
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. Hum Mutat 15:387–388, 2000. © 2000 Wiley‐Liss, Inc.