%0 Journal Article %T Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. %+ Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05) %+ Université de Tunis El Manar (UTM) %+ Collège de France - Chaire Génétique et physiologie cellulaire %+ Hôpital La Rabta [Tunis] %+ CHU Trousseau [APHP] %+ INSERM U931, Clermont Ferrand, France %+ Génétique du Développement humain - Human developmental genetics %A Riahi, Zied %A Bonnet, Crystel %A Zainine, Rim %A Louha, Malek %A Bouyacoub, Yosra %A Laroussi, Nadia %A Chargui, Mariem %A Kefi, Rym %A Jonard, Laurence %A Dorboz, Imen %A Hardelin, Jean-Pierre %A Salah, Sihem Belhaj %A Levilliers, Jacqueline %A Weil, Dominique %A Mcelreavey, Ken %A Boespflug, Odile Tanguy %A Besbes, Ghazi %A Abdelhak, Sonia %A Petit, Christine %Z Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR11IPT05) and by the E.C.Grant agreement Nu 295097 for FP7 project GM-NCD-Inco and BNP Paribas foundation %< avec comité de lecture %@ 1932-6203 %J PLoS ONE %I Public Library of Science %V 9 %N 6 %P e99797 %8 2014 %D 2014 %R 10.1371/journal.pone.0099797 %M 24926664 %Z Life Sciences [q-bio]Journal articles %X Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families. %G English %2 https://riip.hal.science/pasteur-01060192/document %2 https://riip.hal.science/pasteur-01060192/file/journal.pone.0099797.pdf %L pasteur-01060192 %U https://riip.hal.science/pasteur-01060192 %~ PASTEUR %~ RIIP %~ CDF %~ APHP %~ RIIP_TUNIS %~ RIIP_PARIS %~ PSL %~ SORBONNE-UNIVERSITE %~ SU-INF-2018 %~ SU-MEDECINE %~ SU-MED %~ CDF-PSL %~ SU-TI %~ ALLIANCE-SU