Jervell and Lange-Nielsen syndrome

Definition:

Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. Recently, mutations in KCNE1 also have been found to cause JLNS.

References:

[1]. E Schulze-Bahr, et al. Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet. 1997 Oct;100(5-6):573-6. [Content Brief]

[2]. P Duggal, et al. Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation. 1998 Jan 20;97(2):142-6. [Content Brief]

[3]. Q Chen, et al. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation. 1999 Mar 16;99(10):1344-7. [Content Brief]

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