Article
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
PloS one - 1 Jan 2014
Riahi Zied, Bonnet Crystel, Zainine Rim, Louha Malek, Bouyacoub Yosra, Laroussi Nadia, Chargui Mariem, Kefi Rym, Jonard Laurence, Dorboz Imen, Hardelin Jean-Pierre, Salah Sihem Belhaj, Levilliers Jacqueline, Weil Dominique, McElreavey Kenneth, Boespflug Odile Tanguy, Besbes Ghazi, Abdelhak Sonia, Petit Christine
Abstract excerpt
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....
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