Ontology highlight
ABSTRACT:
SUBMITTER: Amirian A
PROVIDER: S-EPMC5776430 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Iranian journal of basic medical sciences 20180101 1
<h4>Objectives</h4>Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome.<h4>Materials and methods</h4>Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage an ...[more]