The study demonstrates that the truncated KCNQ1 splice variant (isoform 2) exerts dominant-negative effects, explaining the autosomal-dominant inheritance pattern in a family with Romano-Ward syndrome.
May inform inheritance patterns in select KCNQ1 families; leaves open broader validation and clinical translation.
This study highlights the functional relevance of the truncated KCNQ1 splice variant (isoform 2) in establishment and mode of inheritance in long QT syndrome. In the RWS family presented here, the autosomal-dominant trait is caused by multiple dominant-negative effects provoked by heteromultimeric channels formed by wild type and mutant KCNQ1-isoforms in combination with KCNE1.
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Thomas et al. (2005) studied this question.