Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.

doi:10.1016/j.ijporl.2015.10.030

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Article

Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.

International journal of pediatric otorhinolaryngology - 1 Dec 2015

Martínez-Saucedo Mirna, Mirna Martínez-Saucedo, Rivera-Vega María del Refugio, María Del Refugio Rivera-Vega, Gonzalez--Huerta Luz María, María Gonzalez-Huerta Luz, Urueta-Cuellar Héctor, Héctor Urueta-Cuellar, Toral-López Jaime, Jaime Toral-López, Berruecos-Villalobos Pedro, Pedro Berruecos-Villalobos, Cuevas-Covarrubias Sergio, Sergio Cuevas-Covarrubias

Abstract excerpt

BACKGROUND: Sensorineural hearing loss (SNHL) is a genetically heterogeneous disease. GJB2 gene mutations seem to be the most frequent cause of hereditary hearing impairment in several populations. There is variability in the mutations in the GJB2 gene worldwide; this remarks the influence of ethnic background in SNHL. OBJECTIVE: To describe the presence of two trimutations in the GJB2 gene in two Mexican...

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PMID: 26553399
DOI: 10.1016/j.ijporl.2015.10.030

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GJB2

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

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