EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
Identifieur interne : 000289 ( Main/Exploration ); précédent : 000288; suivant : 000290EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
Auteurs : Malika Dahmani [Algérie] ; Fatima Ammar-Khodja [Algérie] ; Crystel Bonnet [France] ; Gaelle M. Lefèvre [France] ; Jean-Pierre Hardelin [France] ; Hassina Ibrahim [Algérie] ; Zahia Mallek [Algérie] ; Christine Petit [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2015.
Descripteurs français
- KwdFr :
- Connexines (MeSH), Consanguinité (MeSH), Enfant (MeSH), Femelle (MeSH), Gènes récessifs (MeSH), Humains (MeSH), Mutation avec décalage du cadre de lecture (MeSH), Mâle (MeSH), Pedigree (MeSH), Perte d'audition (génétique), Protéines des microfilaments (MeSH), Protéines membranaires (génétique), Évolution de la maladie (MeSH).
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Membrane Proteins.
- chemical : Connexins, Microfilament Proteins.
- genetics : Hearing Loss.
- Child, Consanguinity, Disease Progression, Female, Frameshift Mutation, Genes, Recessive, Humans, Male, Pedigree.
Abstract
More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian siblings born to consanguineous parents, and affected by progressive hearing loss.
After exclusion of
A frame-shift variant (c.1014delC; p.Ser339Alafs*15) was identified in
Whole-exome sequencing allowed us to identify a new gene responsible for childhood progressive hearing loss transmitted on the autosomal recessive mode.
Url:
DOI: 10.1186/s13023-015-0316-8
PubMed: 26282398
PubMed Central: 4539681
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000070
- to stream Pmc, to step Curation: 000070
- to stream Pmc, to step Checkpoint: 000252
- to stream PubMed, to step Corpus: 000526
- to stream PubMed, to step Curation: 000524
- to stream PubMed, to step Checkpoint: 000541
- to stream Main, to step Merge: 000289
- to stream Main, to step Curation: 000289
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>EPS8L2</italic> is a new causal gene for childhood onset autosomal recessive progressive hearing loss</title><author><name sortKey="Dahmani, Malika" sort="Dahmani, Malika" uniqKey="Dahmani M" first="Malika" last="Dahmani">Malika Dahmani</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Ammar Khodja, Fatima" sort="Ammar Khodja, Fatima" uniqKey="Ammar Khodja F" first="Fatima" last="Ammar-Khodja">Fatima Ammar-Khodja</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Bonnet, Crystel" sort="Bonnet, Crystel" uniqKey="Bonnet C" first="Crystel" last="Bonnet">Crystel Bonnet</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation></author><author><name sortKey="Lefevre, Gaelle M" sort="Lefevre, Gaelle M" uniqKey="Lefevre G" first="Gaelle M." last="Lefèvre">Gaelle M. Lefèvre</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation></author><author><name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Ibrahim, Hassina" sort="Ibrahim, Hassina" uniqKey="Ibrahim H" first="Hassina" last="Ibrahim">Hassina Ibrahim</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Mustapha Pacha, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Mustapha Pacha, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Mallek, Zahia" sort="Mallek, Zahia" uniqKey="Mallek Z" first="Zahia" last="Mallek">Zahia Mallek</name><affiliation wicri:level="1"><nlm:aff id="Aff7">Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Bab El Oued, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Bab El Oued, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff8">Collège de France, 75005 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Collège de France, 75005 Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26282398</idno><idno type="pmc">4539681</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539681</idno><idno type="RBID">PMC:4539681</idno><idno type="doi">10.1186/s13023-015-0316-8</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000070</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000070</idno><idno type="wicri:Area/Pmc/Curation">000070</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000070</idno><idno type="wicri:Area/Pmc/Checkpoint">000252</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000252</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:26282398</idno><idno type="wicri:Area/PubMed/Corpus">000526</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000526</idno><idno type="wicri:Area/PubMed/Curation">000524</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000524</idno><idno type="wicri:Area/PubMed/Checkpoint">000541</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000541</idno><idno type="wicri:Area/Main/Merge">000289</idno><idno type="wicri:Area/Main/Curation">000289</idno><idno type="wicri:Area/Main/Exploration">000289</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>EPS8L2</italic> is a new causal gene for childhood onset autosomal recessive progressive hearing loss</title><author><name sortKey="Dahmani, Malika" sort="Dahmani, Malika" uniqKey="Dahmani M" first="Malika" last="Dahmani">Malika Dahmani</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Ammar Khodja, Fatima" sort="Ammar Khodja, Fatima" uniqKey="Ammar Khodja F" first="Fatima" last="Ammar-Khodja">Fatima Ammar-Khodja</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène (USTHB), El Alia, Bab-Ezzouar, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Bonnet, Crystel" sort="Bonnet, Crystel" uniqKey="Bonnet C" first="Crystel" last="Bonnet">Crystel Bonnet</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation></author><author><name sortKey="Lefevre, Gaelle M" sort="Lefevre, Gaelle M" uniqKey="Lefevre G" first="Gaelle M." last="Lefèvre">Gaelle M. Lefèvre</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation></author><author><name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Ibrahim, Hassina" sort="Ibrahim, Hassina" uniqKey="Ibrahim H" first="Hassina" last="Ibrahim">Hassina Ibrahim</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Mustapha Pacha, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Mustapha Pacha, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Mallek, Zahia" sort="Mallek, Zahia" uniqKey="Mallek Z" first="Zahia" last="Mallek">Zahia Mallek</name><affiliation wicri:level="1"><nlm:aff id="Aff7">Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Bab El Oued, Algiers, Algeria</nlm:aff><country xml:lang="fr">Algérie</country><wicri:regionArea>Service d’otorhinolaryngologie, Centre Hospitalier Universitaire Bab El Oued, Algiers</wicri:regionArea></affiliation></author><author><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="Aff4">Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, Paris, 75252 Cedex 05 France</nlm:aff><wicri:noCountry code="subfield">75252 Cedex 05 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff8">Collège de France, 75005 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Collège de France, 75005 Paris</wicri:regionArea></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child (MeSH)</term><term>Connexins (MeSH)</term><term>Consanguinity (MeSH)</term><term>Disease Progression (MeSH)</term><term>Female (MeSH)</term><term>Frameshift Mutation (MeSH)</term><term>Genes, Recessive (MeSH)</term><term>Hearing Loss (genetics)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Membrane Proteins (genetics)</term><term>Microfilament Proteins (MeSH)</term><term>Pedigree (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Connexines (MeSH)</term><term>Consanguinité (MeSH)</term><term>Enfant (MeSH)</term><term>Femelle (MeSH)</term><term>Gènes récessifs (MeSH)</term><term>Humains (MeSH)</term><term>Mutation avec décalage du cadre de lecture (MeSH)</term><term>Mâle (MeSH)</term><term>Pedigree (MeSH)</term><term>Perte d'audition (génétique)</term><term>Protéines des microfilaments (MeSH)</term><term>Protéines membranaires (génétique)</term><term>Évolution de la maladie (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Connexins</term><term>Microfilament Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hearing Loss</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Perte d'audition</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Consanguinity</term><term>Disease Progression</term><term>Female</term><term>Frameshift Mutation</term><term>Genes, Recessive</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Connexines</term><term>Consanguinité</term><term>Enfant</term><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Mutation avec décalage du cadre de lecture</term><term>Mâle</term><term>Pedigree</term><term>Protéines des microfilaments</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian siblings born to consanguineous parents, and affected by progressive hearing loss.</p></sec><sec><title>Method</title><p>After exclusion of <italic>GJB2</italic> (the gene most frequently involved in non-syndromic deafness in Mediterranean countries), we performed whole-exome sequencing in one sibling.</p></sec><sec><title>Results</title><p>A frame-shift variant (c.1014delC; p.Ser339Alafs*15) was identified in <italic>EPS8L2</italic>, encoding Epidermal growth factor receptor Pathway Substrate 8 L2, a protein of hair cells’ stereocilia previously implicated in progressive deafness in the mouse. This variant predicts a truncated, inactive protein, or no protein at all owing to nonsense-mediated mRNA decay. It was detected at the homozygous state in the two clinically affected siblings, and at the heterozygous state in the unaffected parents and one unaffected sibling, whereas it was never found in a control population of 150 Algerians with normal hearing or in the Exome Variant Server database.</p></sec><sec><title>Conclusion</title><p>Whole-exome sequencing allowed us to identify a new gene responsible for childhood progressive hearing loss transmitted on the autosomal recessive mode.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Petit, C" uniqKey="Petit C">C Petit</name></author><author><name sortKey="Levilliers, J" uniqKey="Levilliers J">J Levilliers</name></author><author><name sortKey="Hardelin, J P" uniqKey="Hardelin J">J-P Hardelin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Morton, Ne" uniqKey="Morton N">NE Morton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bitner Glindzicz, M" uniqKey="Bitner Glindzicz M">M Bitner-Glindzicz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Piatto, Vb" uniqKey="Piatto V">VB Piatto</name></author><author><name sortKey="Secches, Lv" uniqKey="Secches L">LV Secches</name></author><author><name sortKey="Arroyo, Mas" uniqKey="Arroyo M">MAS Arroyo</name></author><author><name sortKey="Lopes, Acp" uniqKey="Lopes A">ACP Lopes</name></author><author><name sortKey="Maniglia, Jv" uniqKey="Maniglia J">JV Maniglia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Denoyelle, F" uniqKey="Denoyelle F">F Denoyelle</name></author><author><name sortKey="Marlin, S" uniqKey="Marlin S">S Marlin</name></author><author><name sortKey="Weil, D" uniqKey="Weil D">D Weil</name></author><author><name sortKey="Moatti, L" uniqKey="Moatti L">L Moatti</name></author><author><name sortKey="Chauvin, F" uniqKey="Chauvin F">F Chauvin</name></author><author><name sortKey="Garabedian, En" uniqKey="Garabedian E">EN Garabedian</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Frei, K" uniqKey="Frei K">K Frei</name></author><author><name sortKey="Ramsebner, R" uniqKey="Ramsebner R">R Ramsebner</name></author><author><name sortKey="Lucas, T" uniqKey="Lucas T">T Lucas</name></author><author><name sortKey="Hamader, G" uniqKey="Hamader G">G Hamader</name></author><author><name sortKey="Szuhai, K" uniqKey="Szuhai K">K Szuhai</name></author><author><name sortKey="Weipoltshammer, K" uniqKey="Weipoltshammer K">K Weipoltshammer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ammar Khodja, F" uniqKey="Ammar Khodja F">F Ammar-Khodja</name></author><author><name sortKey="Makrelouf, M" uniqKey="Makrelouf M">M Makrelouf</name></author><author><name sortKey="Malek, R" uniqKey="Malek R">R Malek</name></author><author><name sortKey="Ibrahim, H" uniqKey="Ibrahim H">H Ibrahim</name></author><author><name sortKey="Zenati, A" uniqKey="Zenati A">A Zenati</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Delmaghani, S" uniqKey="Delmaghani S">S Delmaghani</name></author><author><name sortKey="Aghaie, A" uniqKey="Aghaie A">A Aghaie</name></author><author><name sortKey="Michalski, N" uniqKey="Michalski N">N Michalski</name></author><author><name sortKey="Bonnet, C" uniqKey="Bonnet C">C Bonnet</name></author><author><name sortKey="Weil, D" uniqKey="Weil D">D Weil</name></author><author><name sortKey="Petit, C" uniqKey="Petit C">C Petit</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Del Castillo, Fj" uniqKey="Del Castillo F">FJ del Castillo</name></author><author><name sortKey="Rodriguez Allesteros, M" uniqKey="Rodriguez Allesteros M">M Rodriguez‐Ballesteros</name></author><author><name sortKey="Alvarez, A" uniqKey="Alvarez A">A Alvarez</name></author><author><name sortKey="Hutchin, T" uniqKey="Hutchin T">T Hutchin</name></author><author><name sortKey="Leonardi, E" uniqKey="Leonardi E">E Leonardi</name></author><author><name sortKey="De Oliveira, Ca" uniqKey="De Oliveira C">CA de Oliveira</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Furness, Dn" uniqKey="Furness D">DN Furness</name></author><author><name sortKey="Johnson, Sl" uniqKey="Johnson S">SL Johnson</name></author><author><name sortKey="Manor, U" uniqKey="Manor U">U Manor</name></author><author><name sortKey="Ruttiger, L" uniqKey="Ruttiger L">L Ruttiger</name></author><author><name sortKey="Tocchetti, A" uniqKey="Tocchetti A">A Tocchetti</name></author><author><name sortKey="Offenhauser, N" uniqKey="Offenhauser N">N Offenhauser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Abe, S" uniqKey="Abe S">S Abe</name></author><author><name sortKey="Usami, S" uniqKey="Usami S">S Usami</name></author><author><name sortKey="Hoover, Dm" uniqKey="Hoover D">DM Hoover</name></author><author><name sortKey="Cohn, E" uniqKey="Cohn E">E Cohn</name></author><author><name sortKey="Shinkawa, H" uniqKey="Shinkawa H">H Shinkawa</name></author><author><name sortKey="Kimberling, Wj" uniqKey="Kimberling W">WJ Kimberling</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bladwin, Ct" uniqKey="Bladwin C">CT Bladwin</name></author><author><name sortKey="Weiss, S" uniqKey="Weiss S">S Weiss</name></author><author><name sortKey="Farrer, La" uniqKey="Farrer L">LA Farrer</name></author><author><name sortKey="De Stefano, Al" uniqKey="De Stefano A">AL De Stefano</name></author><author><name sortKey="Adair, R" uniqKey="Adair R">R Adair</name></author><author><name sortKey="Franklyn, B" uniqKey="Franklyn B">B Franklyn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Walsh, T" uniqKey="Walsh T">T Walsh</name></author><author><name sortKey="Walsh, V" uniqKey="Walsh V">V Walsh</name></author><author><name sortKey="Vreugde, S" uniqKey="Vreugde S">S Vreugde</name></author><author><name sortKey="Hertzano, R" uniqKey="Hertzano R">R Hertzano</name></author><author><name sortKey="Shahin, H" uniqKey="Shahin H">H Shahin</name></author><author><name sortKey="Haika, S" uniqKey="Haika S">S Haika</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Grillet, N" uniqKey="Grillet N">N Grillet</name></author><author><name sortKey="Schwander, M" uniqKey="Schwander M">M Schwander</name></author><author><name sortKey="Hildebrand, Ms" uniqKey="Hildebrand M">MS Hildebrand</name></author><author><name sortKey="Sczaniecka, A" uniqKey="Sczaniecka A">A Sczaniecka</name></author><author><name sortKey="Kolatkar, A" uniqKey="Kolatkar A">A Kolatkar</name></author><author><name sortKey="Velasco, J" uniqKey="Velasco J">J Velasco</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Delmaghani, S" uniqKey="Delmaghani S">S Delmaghani</name></author><author><name sortKey="Del Castillo, Fg" uniqKey="Del Castillo F">FG del Castillo</name></author><author><name sortKey="Michel, V" uniqKey="Michel V">V Michel</name></author><author><name sortKey="Leibovici, M" uniqKey="Leibovici M">M Leibovici</name></author><author><name sortKey="Aghaie, A" uniqKey="Aghaie A">A Aghaie</name></author><author><name sortKey="Ron, U" uniqKey="Ron U">U Ron</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schwander, M" uniqKey="Schwander M">M Schwander</name></author><author><name sortKey="Sczaniecka, A" uniqKey="Sczaniecka A">A Sczaniecka</name></author><author><name sortKey="Grillet, N" uniqKey="Grillet N">N Grillet</name></author><author><name sortKey="Bailey, Js" uniqKey="Bailey J">JS Bailey</name></author><author><name sortKey="Avenarius, M" uniqKey="Avenarius M">M Avenarius</name></author><author><name sortKey="Najmabadi, H" uniqKey="Najmabadi H">H Najmabadi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ebermann, I" uniqKey="Ebermann I">I Ebermann</name></author><author><name sortKey="Walger, M" uniqKey="Walger M">M Walger</name></author><author><name sortKey="Scholl, Hpn" uniqKey="Scholl H">HPN Scholl</name></author><author><name sortKey="Issa, Pc" uniqKey="Issa P">PC Issa</name></author><author><name sortKey="Luke, C" uniqKey="Luke C">C Luke</name></author><author><name sortKey="Nurnberg, G" uniqKey="Nurnberg G">G Nurnberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chaleshtori, Mh" uniqKey="Chaleshtori M">MH Chaleshtori</name></author><author><name sortKey="Simpson, Ma" uniqKey="Simpson M">MA Simpson</name></author><author><name sortKey="Farrokhi, E" uniqKey="Farrokhi E">E Farrokhi</name></author><author><name sortKey="Dolati, M" uniqKey="Dolati M">M Dolati</name></author><author><name sortKey="Rad, Lh" uniqKey="Rad L">LH Rad</name></author><author><name sortKey="Geshnigani, Sa" uniqKey="Geshnigani S">SA Geshnigani</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Collin, Rwj" uniqKey="Collin R">RWJ Collin</name></author><author><name sortKey="Kalay, E" uniqKey="Kalay E">E Kalay</name></author><author><name sortKey="Oostrik, J" uniqKey="Oostrik J">J Oostrik</name></author><author><name sortKey="Caylan, R" uniqKey="Caylan R">R Caylan</name></author><author><name sortKey="Wollnik, B" uniqKey="Wollnik B">B Wollnik</name></author><author><name sortKey="Arslan, S" uniqKey="Arslan S">S Arslan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, M" uniqKey="Huang M">M Huang</name></author><author><name sortKey="Duman, D" uniqKey="Duman D">D Duman</name></author><author><name sortKey="Cengiz, Fb" uniqKey="Cengiz F">FB Cengiz</name></author><author><name sortKey="Bademci, G" uniqKey="Bademci G">G Bademci</name></author><author><name sortKey="Tokgoz Yilmaz, S" uniqKey="Tokgoz Yilmaz S">S Tokgöz-Yilmaz</name></author><author><name sortKey="Hi Mi, B" uniqKey="Hi Mi B">B Hişmi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rehman, Au" uniqKey="Rehman A">AU Rehman</name></author><author><name sortKey="Morell, Rj" uniqKey="Morell R">RJ Morell</name></author><author><name sortKey="Belyantseva, Ia" uniqKey="Belyantseva I">IA Belyantseva</name></author><author><name sortKey="Khan, Sy" uniqKey="Khan S">SY Khan</name></author><author><name sortKey="Boger, Et" uniqKey="Boger E">ET Boger</name></author><author><name sortKey="Shahzad, M" uniqKey="Shahzad M">M Shahzad</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name></author><author><name sortKey="Pohl, E" uniqKey="Pohl E">E Pohl</name></author><author><name sortKey="Boulouiz, R" uniqKey="Boulouiz R">R Boulouiz</name></author><author><name sortKey="Schraders, M" uniqKey="Schraders M">M Schraders</name></author><author><name sortKey="Nurnberg, G" uniqKey="Nurnberg G">G Nurnberg</name></author><author><name sortKey="Charif, M" uniqKey="Charif M">M Charif</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Veske, A" uniqKey="Veske A">A Veske</name></author><author><name sortKey="Oehlmann, R" uniqKey="Oehlmann R">R Oehlmann</name></author><author><name sortKey="Younus, F" uniqKey="Younus F">F Younus</name></author><author><name sortKey="Mohyuddin, A" uniqKey="Mohyuddin A">A Mohyuddin</name></author><author><name sortKey="Muller Myhsok, B" uniqKey="Muller Myhsok B">B Müller-Myhsok</name></author><author><name sortKey="Qasim Mehdi, S" uniqKey="Qasim Mehdi S">S Qasim Mehdi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Scott, Hs" uniqKey="Scott H">HS Scott</name></author><author><name sortKey="Kudoh, J" uniqKey="Kudoh J">J Kudoh</name></author><author><name sortKey="Wattenhofer, M" uniqKey="Wattenhofer M">M Wattenhofer</name></author><author><name sortKey="Shibuya, K" uniqKey="Shibuya K">K Shibuya</name></author><author><name sortKey="Berry, A" uniqKey="Berry A">A Berry</name></author><author><name sortKey="Chrast, R" uniqKey="Chrast R">R Chrast</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Charizopoulou, N" uniqKey="Charizopoulou N">N Charizopoulou</name></author><author><name sortKey="Lelli, A" uniqKey="Lelli A">A Lelli</name></author><author><name sortKey="Schraders, M" uniqKey="Schraders M">M Schraders</name></author><author><name sortKey="Ray, K" uniqKey="Ray K">K Ray</name></author><author><name sortKey="Hildebrand, Ms" uniqKey="Hildebrand M">MS Hildebrand</name></author><author><name sortKey="Ramesh, A" uniqKey="Ramesh A">A Ramesh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Horn, Hf" uniqKey="Horn H">HF Horn</name></author><author><name sortKey="Brownstein, Z" uniqKey="Brownstein Z">Z Brownstein</name></author><author><name sortKey="Lenz, Dr" uniqKey="Lenz D">DR Lenz</name></author><author><name sortKey="Shivatzki, S" uniqKey="Shivatzki S">S Shivatzki</name></author><author><name sortKey="Dror, Aa" uniqKey="Dror A">AA Dror</name></author><author><name sortKey="Dagan Rosenfeld, O" uniqKey="Dagan Rosenfeld O">O Dagan-Rosenfeld</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Imtiaz, A" uniqKey="Imtiaz A">A Imtiaz</name></author><author><name sortKey="Kohrman, Dc" uniqKey="Kohrman D">DC Kohrman</name></author><author><name sortKey="Naz, Sa" uniqKey="Naz S">SA Naz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Seco, Cz" uniqKey="Seco C">CZ Seco</name></author><author><name sortKey="Oonk, Am" uniqKey="Oonk A">AM Oonk</name></author><author><name sortKey="Dom Nguez Ruiz, M" uniqKey="Dom Nguez Ruiz M">M Domınguez-Ruiz</name></author><author><name sortKey="Draaisma, Jmt" uniqKey="Draaisma J">JMT Draaisma</name></author><author><name sortKey="Gandi, M" uniqKey="Gandi M">M Gandi</name></author><author><name sortKey="Oostrik, J" uniqKey="Oostrik J">J Oostrik</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Heer, Am" uniqKey="De Heer A">AM de Heer</name></author><author><name sortKey="Collin, Rw" uniqKey="Collin R">RW Collin</name></author><author><name sortKey="Huygen, Pl" uniqKey="Huygen P">PL Huygen</name></author><author><name sortKey="Schraders, M" uniqKey="Schraders M">M Schraders</name></author><author><name sortKey="Oostrik, J" uniqKey="Oostrik J">J Oostrik</name></author><author><name sortKey="Rouwette, M" uniqKey="Rouwette M">M Rouwette</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Offenh User, N" uniqKey="Offenh User N">N Offenhäuser</name></author><author><name sortKey="Borgonovo, A" uniqKey="Borgonovo A">A Borgonovo</name></author><author><name sortKey="Disanza, A" uniqKey="Disanza A">A Disanza</name></author><author><name sortKey="Romano, P" uniqKey="Romano P">P Romano</name></author><author><name sortKey="Ponzanelli, I" uniqKey="Ponzanelli I">I Ponzanelli</name></author><author><name sortKey="Iannolo, G" uniqKey="Iannolo G">G Iannolo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zampini, V" uniqKey="Zampini V">V Zampini</name></author><author><name sortKey="Ruttiger, L" uniqKey="Ruttiger L">L Ruttiger</name></author><author><name sortKey="Johnson, Sl" uniqKey="Johnson S">SL Johnson</name></author><author><name sortKey="Franz, C" uniqKey="Franz C">C Franz</name></author><author><name sortKey="Furness, Dn" uniqKey="Furness D">DN Furness</name></author><author><name sortKey="Waldhaus, J" uniqKey="Waldhaus J">J Waldhaus</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Behlouli, A" uniqKey="Behlouli A">A Behlouli</name></author><author><name sortKey="Bonnet, C" uniqKey="Bonnet C">C Bonnet</name></author><author><name sortKey="Abdi, S" uniqKey="Abdi S">S Abdi</name></author><author><name sortKey="Bouaita, A" uniqKey="Bouaita A">A Bouaita</name></author><author><name sortKey="Lelli, A" uniqKey="Lelli A">A Lelli</name></author><author><name sortKey="Hardelin, J P" uniqKey="Hardelin J">J-P Hardelin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Manor, U" uniqKey="Manor U">U Manor</name></author><author><name sortKey="Disanza, A" uniqKey="Disanza A">A Disanza</name></author><author><name sortKey="Grati, Mh" uniqKey="Grati M">MH Grati</name></author><author><name sortKey="Andrade, L" uniqKey="Andrade L">L Andrade</name></author><author><name sortKey="Lin, H" uniqKey="Lin H">H Lin</name></author><author><name sortKey="Di Fiore, Pp" uniqKey="Di Fiore P">PP Di Fiore</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Algérie</li><li>France</li></country></list><tree><country name="Algérie"><noRegion><name sortKey="Dahmani, Malika" sort="Dahmani, Malika" uniqKey="Dahmani M" first="Malika" last="Dahmani">Malika Dahmani</name></noRegion><name sortKey="Ammar Khodja, Fatima" sort="Ammar Khodja, Fatima" uniqKey="Ammar Khodja F" first="Fatima" last="Ammar-Khodja">Fatima Ammar-Khodja</name><name sortKey="Ibrahim, Hassina" sort="Ibrahim, Hassina" uniqKey="Ibrahim H" first="Hassina" last="Ibrahim">Hassina Ibrahim</name><name sortKey="Mallek, Zahia" sort="Mallek, Zahia" uniqKey="Mallek Z" first="Zahia" last="Mallek">Zahia Mallek</name></country><country name="France"><noRegion><name sortKey="Bonnet, Crystel" sort="Bonnet, Crystel" uniqKey="Bonnet C" first="Crystel" last="Bonnet">Crystel Bonnet</name></noRegion><name sortKey="Bonnet, Crystel" sort="Bonnet, Crystel" uniqKey="Bonnet C" first="Crystel" last="Bonnet">Crystel Bonnet</name><name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name><name sortKey="Hardelin, Jean Pierre" sort="Hardelin, Jean Pierre" uniqKey="Hardelin J" first="Jean-Pierre" last="Hardelin">Jean-Pierre Hardelin</name><name sortKey="Lefevre, Gaelle M" sort="Lefevre, Gaelle M" uniqKey="Lefevre G" first="Gaelle M." last="Lefèvre">Gaelle M. Lefèvre</name><name sortKey="Lefevre, Gaelle M" sort="Lefevre, Gaelle M" uniqKey="Lefevre G" first="Gaelle M." last="Lefèvre">Gaelle M. Lefèvre</name><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name><name sortKey="Petit, Christine" sort="Petit, Christine" uniqKey="Petit C" first="Christine" last="Petit">Christine Petit</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/MaghrebDataLibMedV2/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000289 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000289 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= MaghrebDataLibMedV2
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4539681
|texte= EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:26282398" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MaghrebDataLibMedV2
| This area was generated with Dilib version V0.6.38. |  |