Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
- PMID: 11140949
- DOI: 10.1007/s004390000402
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
Erratum in
- Hum Genet 2001 Jan;108(1):75
Abstract
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine mutations identified in this group of 10 families, five are nonsense or frameshift mutations. Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. However, study of a frameshift mutation, with a dominant effect phenotypically, suggests the presence of another assembly domain nearer to the N-terminus.
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