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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
PLoS ONE, Volume 9, No. 6, Article e99797, Year 2014
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Description
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. © 2014 Riahi et al.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC4057390/bin/pone.0099797.s001.docx
https://efashare.b-cdn.net/share/pmc/articles/PMC4057390/bin/pone.0099797.s002.docx
Authors & Co-Authors
Riahi, Zied
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Bonnet, Crystel
France, Paris
Génétique et Physiologie de L’audition
Zaïnine, Rim
Tunisia, Tunis
Hôpital la Rabta
Louha, Malek
France, Paris
Hôpital Armand-trousseau
Bouyacoub, Yosra
Tunisia, Tunis
Institut Pasteur de Tunis
Laroussi, Nadia
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Chargui, Mariem
Tunisia, Tunis
Institut Pasteur de Tunis
Kefi, R.
Tunisia, Tunis
Institut Pasteur de Tunis
Jonard, Laurence
France, Paris
Hôpital Armand-trousseau
Dorboz, Imen
France, Paris
Inserm
Hardelin, Jean Pierre
France, Paris
Institut Pasteur, Paris
Salah, Sihem Belhaj
Tunisia, Tunis
Hôpital la Rabta
Levilliers, Jacqueline
France, Paris
Institut Pasteur, Paris
Weil, Dominique
France, Paris
Institut Pasteur, Paris
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Boespflug, Odile Tanguy
France, Paris
Inserm
Besbes, Ghazi
Tunisia, Tunis
Hôpital la Rabta
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Petit, Christine
France, Paris
Génétique et Physiologie de L’audition
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 22
Authors: 19
Affiliations: 7
Identifiers
Doi:
10.1371/journal.pone.0099797
e-ISSN:
19326203
Research Areas
Cancer
Disability
Genetics And Genomics