Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness.

Source: International Journal of Pediatric Otorhinolaryngology - July 9, 2018 Category: ENT & OMF Authors: Soukaina Elrharchi, Zied Riahi, Sara Salime, Halima Nahili, Hassan Rouba, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat Source Type: research