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

Publication date: Available online 10 July 2018

Source: International Journal of Pediatric Otorhinolaryngology

Author(s): Soukaina Elrharchi, Zied Riahi, Sara Salime, Halima Nahili, Hassan Rouba, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat

Abstract

Objectives

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.

Methods

Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families.

Results

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.

Conclusion

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.

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