The paper discusses the molecular basis of Jervell and Lange-Nielsen syndrome, a rare autosomal recessive condition characterized by congenital deafness and prolonged QT interval.
In 1957, Jervell and Lange-Nielsen reported a syndrome of congenital sensory deafness associated with a prolonged QT interval in four children of a Norwegian family.1 The affected children had multiple syncopal episodes, and three died suddenly at the ages of four, five, and nine years. Since 1957, other examples of the long-QT syndrome associated with deafness (the Jervell and Lange-Nielsen syndrome) have been described.2–4 In all cases, the apparent mode of inheritance was autosomal recessive. This syndrome is rare (estimated incidence, 1.6 to 6 cases per million).2 Affected persons are susceptible to recurrent syncope, and they have a high . . .
Splawski et al. (1997) studied this question.