KCNE1

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KCNE1

Notation for a voltage-gated potassium-channel gene.

KCNE1

A gene on chromosome 21q22.12 that encodes a member of the KCNE K+ channel family, which are essential to many cellular functions; they are protean in their electrophysiologic and pharmacologic properties. The KCNE1 protein product associates with the KVLQT1 protein product forming the delayed rectifier potassium channel.

Molecular pathology
KVLQT1 mutations are associated with Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome.
References in periodicals archive ?
Jervell and Lange-Nielsen Syndrome (JLNS) is a rare condition that causes bilateral hearing loss from birth and a disruption of the normal heart's rhythm (arrhythmia).
In another study, it was said that genetic pathology involved in causing JLNS is the mutation in the genes for potassium channel, KCNQ1 or KCNE1.
JLNS is predominantly detected during early childhood with onset usually by the age of three years; however, onset by the age of 30 years6 (without deafness) and the age of 61 years7(with deafness) have been reported.
Our study shows random prevalence of JLNS among different age groups.
History of cousin marriage was present in all the 31 patients in the sample population fulfilling the definitive diagnostic criteria for JLNS. ECGs of the immediate relatives revealed that brothers of 5 children and sisters of 6 children had long QT intervals on ECG.
Hearing loss in JLNS may be treated successfully with cochlear implantation (CI), an intervention that does not interfere with bipolar pacemakers.
Neyroud et al[64] reported the first molecular abnormality in patients with JLNS when they reported on 2 families in which 3 children were affected by JLNS and in whom a novel homozygous deletion-insertion mutation of KVLQT1 in 3 patients was found, which resulted in premature termination at the C-terminal end of the KVLQT1 channel.
It is interesting that, in general, heterozygous mutations in KVLQT1 cause RWS (LQTS only), while homozygous mutations in KVLQT1 cause JLNS (LQTS and deafness).
Schulze-Bahr et al[69] showed that mutations in minK result in JLNS syndrome as well.