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Article

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

International journal of pediatric otorhinolaryngology - 1 Sept 2013

Riahi Zied, Zainine Rim, Mellouli Yosra, Hannachi Raja, Bouyacoub Yosra, Laroussi Nadia, Beltaief Najeh, Kefi Rym, Romdhane Lilia, Bonnet Crystel, Abdelhak Sonia, Besbes Ghazi

Abstract excerpt

OBJECTIVES: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. METHODS: We screened a Tunisian child affected...

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Source

Identifiers

PMID: 23856378
DOI: 10.1016/j.ijporl.2013.06.013

Genes

GJB2

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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