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

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

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

Zied Riahi ^{1, 2} Rim Zainine ³ Yosra Mellouli ⁴ Raja Hannachi ⁴ Yosra Bouyacoub ² Nadia Laroussi ^{1, 2} Najeh Beltaief ⁵ Rym Kefi ² Lilia Romdhane ² Crystel Bonnet ⁶ Sonia Abdelhak ^{2, *} Ghazi Besbes ⁵

* Corresponding author

1 Faculté des Sciences de Tunis

2 Institut Pasteur de Tunis

3 Service d'ORL et de Chirurgie Maxillo-faciale,

4 Service d'ORL et de Chirurgie Maxillo-faciale

5 Service d'ORL et de Chirurgie Maxillo-faciale

6 Institut de la Vision

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.

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Submitted on : Wednesday, September 11, 2013 - 9:39:25 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

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

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

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