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Journal articles
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
Abstract : 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 by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. RESULTS: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G>A) and p.R143Q (c.428G>A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. CONCLUSIONS: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient.
https://hal-riip.archives-ouvertes.fr/pasteur-00860772
Contributor : Institut Pasteur Tunis <>
Submitted on : Wednesday, September 11, 2013 - 9:39:25 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM
Contributor : Institut Pasteur Tunis <>
Submitted on : Wednesday, September 11, 2013 - 9:39:25 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM
