Article
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
American journal of medical genetics. Part A - 1 Jun 2016
Vyas Bijal, Puri Ratna D, Namboodiri Narayanan, Nair Mohan, Sharma Deepak, Movva Sireesha, Saxena Renu, Bohora Shomu, Aggarwal Neeraj, Vora Amit, Kumar Jatinder, Singh Tarandeep, Verma Ishwar C
Abstract excerpt
Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano-Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. Forty patients with a...
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