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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 55, Year 2014
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Description
Background: Almost 90% of all cases of congenital, non-syndromic, severe to profound inherited deafness display an autosomal recessive mode of transmission (DFNB forms). To date, 47 causal DFNB genes have been identified, but many others remain to be discovered. We report the study of two siblings born to consanguineous Algerian parents and affected by isolated, profound congenital deafness. Method. Whole-exome sequencing was carried out on these patients after a failure to identify mutations in the DFNB genes frequently involved. Results: A biallelic nonsense mutation, c.88C > T (p.Gln30*), was identified in EPS8 that encodes epidermal growth factor receptor pathway substrate 8, a 822 amino-acid protein involved in actin dynamics. This mutation predicts a truncated inactive protein or no protein at all. The mutation was also present, in the heterozygous state, in one clinically unaffected sibling and in both unaffected parents, and was absent from the other two unaffected siblings. It was not found in 120 Algerian normal hearing control individuals or in the Exome Variant Server database. EPS8 is an F-actin capping and bundling protein. Mutant mice lacking EPS8 (Eps8 -/- mice), which is present in the hair bundle, the sensory antenna of the auditory sensory cells that operate the mechano-electrical transduction, are also profoundly deaf and have abnormally short hair bundle stereocilia. Conclusion: This new DFNB form is likely to arise from abnormal hair bundles resulting in compromised detection of physiological sound pressures. © 2014 Behlouli et al.; licensee BioMed Central Ltd.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC4022326/bin/1750-1172-9-55-S1.docx
Authors & Co-Authors
Behlouli, Asma
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Bonnet, Crystel
France, Paris
Institut de la Vision
Abdi, Samia
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Bouaita, Aïcha
France, Paris
Institut de la Vision
Lelli, Andrea
France, Paris
Inserm
Hardelin, Jean Pierre
France, Paris
Inserm
Schietroma, Cataldo
France, Paris
Institut de la Vision
Rous, Yahia
France, Paris
Hôpital Armand-trousseau
Louha, Malek
France, Paris
Hôpital Armand-trousseau
Cheknane, Ahmed
Algeria, Kolea
Centre Hospitalo-universitaire de Blida
Lebdi, Hayet
Algeria, Kolea
Centre Hospitalo-universitaire de Blida
Boudjelida, Kamel
Algeria, Kolea
Centre Hospitalo-universitaire de Blida
Makrelouf, Mohamed
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Zenati, Akila
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Petit, Christine
France, Paris
Institut de la Vision
France, Paris
Inserm
France, Paris
Collège de
Statistics
Citations: 57
Authors: 15
Affiliations: 7
Identifiers
Doi:
10.1186/1750-1172-9-55
e-ISSN:
17501172
Research Areas
Cancer
Disability
Genetics And Genomics