Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Zied Riahi; Hassen Hammami; Houyem Ouragini; Habib Messai; Rim Zainine; Yosra Bouyacoub; Lilia Romdhane; Donia Essaid; Rym Kefi; Mohsen Rhimi; Monia Bedoui; Afef Dhaouadi; Delphine Feldmann; Laurence Jonard; Ghazi Besbes; Sonia Abdelhak

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Zied Riahi ^{1, 2} Hassen Hammami ³ Houyem Ouragini ² Habib Messai ^{2, 4} Rim Zainine ³ Yosra Bouyacoub ² Lilia Romdhane ² Donia Essaid ² Rym Kefi ² Mohsen Rhimi ⁵ Monia Bedoui ⁵ Afef Dhaouadi ³ Delphine Feldmann ⁶ Laurence Jonard ⁶ Ghazi Besbes ³ Sonia Abdelhak ^{2, *}

* Corresponding author

1 Faculté des Sciences de Tunis

2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

3 Service d'ORL et de Chirurgie Maxillo-Faciale

4 Laboratoire de Biochimie Biologie Moléculaire

5 Hôpital Public d'El Jem

6 Institut Supérieur des Sciences Biologiques Appliquées

Abstract : Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness. The aim of this study was to determine the relative frequency of GJB2 allele variants in Tunisia. In this study, we screened 138 patients with congenital hearing loss belonging to 131 families originating from different parts of Tunisia for mutations in GJB2 gene. GJB2 mutations were found in 39% of families (51/131). The most common mutation was c.35delG accounting for 35% of all cases (46/131). The second most frequent mutation was p.E47X present in 3.8% of families. Four identified mutations in our cohort have not been reported in Tunisia; p.V37I, c.235delC, p.G130A and the splice site mutation IVS1+1G>A (0.76%). These previously described mutations were detected only in families originating from Northern and not from other geographical regions in Tunisia. In conclusion we have confirmed the high frequency of c.35delG in Tunisia which represents 85.4% of all GJB2 mutant alleles. We have also extended the mutational spectrum of GJB2 gene in Tunisia and revealed a more pronounced allelic heterogeneity in the North compared to the rest of the country.

Mots-clés : Deafness Connexin 26 Tunisia

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

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https://hal-riip.archives-ouvertes.fr/pasteur-00861409
Contributor : Institut Pasteur Tunis <>
Submitted on : Thursday, September 12, 2013 - 4:14:53 PM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

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Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

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