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Article

Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

International journal of pediatric otorhinolaryngology - 1 Jan 2017

Wang Hong-Han, Feng Yong, Li Hai-Bo, Wu Hong, Mei Ling-Yun, Wang Xing-Wei, Jiang Lu, He Chu-Feng

Abstract excerpt

Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the...

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Source

Identifiers

PMID: 28012523
DOI: 10.1016/j.ijporl.2016.10.028

Genes

GJB2
BSND
CLCNKA
CLCNKB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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