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Article

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.

International journal of pediatric otorhinolaryngology - 1 Feb 2016

Markova T G, Brazhkina N B, Bliznech E A, Bakhshinyan V V, Polyakov A V, Tavartkiladze G A

Abstract excerpt

Keratitis-ichthyosis-deafness (KID) syndrome (OMIM 148210) is a rare ectodermal dysplasia syndrome characterized by vascularizing keratitis, congenital profound sensorineural hearing loss, and progressive erythrokeratoderma. We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness. This finding allowed us to diagnose а KID syndrome....

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Source

Identifiers

PMID: 26810281
DOI: 10.1016/j.ijporl.2015.11.022

Genes

GJB2

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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