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

International Journal of Pediatric Otorhinolaryngology
Soukaina ElrharchiAbdelhamid Barakat

Abstract

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. Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families. The two novel homozygous mutations p.Arg8Gly (c.22C > G), p.Thr36Asn (c.107C > A) in exon 1 of BSND gene which encodes barttin were identified in 7 patients belonging to two unrelated families originated from central region of Morocco. We identified two novel missense mutations p.Arg8Gly and p.Thr36Asn in exon 1 of BSND gene; both mutations were described for the first time in Moroccan patients with Bartter syndrome type IV.

Citations

Jun 4, 2020·World Journal of Pediatrics : WJP·Flavia Cristina Carvalho MradAna Cristina Simões-E-Silva

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Ferda OzluOsman Demirhan
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Victor García-NietoFélix Claverie-Martín
© 2022 Meta ULC. All rights reserved