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The Jervell and Lange-Nielsen syndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes. These are caused by ventricular arrhythmias secondary to abnormal repolarisation, manifested by a prolonged QT interval on the electrocardiogram. Recently, in families with JLNS, Neyroudet al.reported homozygosity for a single mutation inKVLQT1, a gene which has previously been shown to be mutated in families with dominantly inherited isolated long QT syndrome [Neyroudet al.(1997)Nature Genet., 15, 186–189]. We have analysed a group of families with JLNS and shown that the majority are consistent with mutation at this locus: five families of differing ethnic backgrounds were homozygous by descent for markers close to theKVLQT1gene and a further three families from the same geographical region were shown to be homozygous for a common haplotype and to have the same homozygous mutation of theKVLQT1gene. However, analysis of a single small consanguineous family excluded linkage to theKVLQT1gene, establishing genetic heterogeneity in JLNS. The affected children in this family were homozygous by descent for markers on chromosome 21, in a region containing the geneIsK. This codes for a transmembrane protein known to associate withKVLQT1to form the slow component of the delayed rectifier potassium channel. Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in theIsKgene may be a rare cause of JLNS and that an indistinguishable phenotype can arise from mutations in either of the two interacting molecules.

human molecular genetics

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome