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Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Identifieur interne : 000464 ( Main/Exploration ); précédent : 000463; suivant : 000465

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Auteurs : Amina Bakhchane [Maroc] ; Amale Bousfiha [Maroc] ; Hicham Charoute [Maroc] ; Sara Salime [Maroc] ; Mustapha Detsouli [Maroc] ; Khalid Snoussi [Maroc] ; Sellama Nadifi [Maroc] ; Mostafa Kabine [Maroc] ; Hassan Rouba [Maroc] ; Hind Dehbi [Maroc] ; Rachida Roky [Maroc] ; Majida Charif [Maroc] ; Abdelhamid Barakat [Maroc]

Source :

RBID : pubmed:27169813

Descripteurs français

English descriptors

Abstract

Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis.

DOI: 10.1016/j.ejmg.2016.05.002
PubMed: 27169813


Affiliations:


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Le document en format XML

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<term>Alleles (MeSH)</term>
<term>Connexins (genetics)</term>
<term>Deafness (epidemiology)</term>
<term>Deafness (genetics)</term>
<term>Deafness (physiopathology)</term>
<term>Female (MeSH)</term>
<term>Genes, Recessive (MeSH)</term>
<term>Genetic Heterogeneity (MeSH)</term>
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<term>Male (MeSH)</term>
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<term>Allèles (MeSH)</term>
<term>Connexines (génétique)</term>
<term>Femelle (MeSH)</term>
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<term>Hétérogénéité génétique (MeSH)</term>
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<term>Mâle (MeSH)</term>
<term>Surdité (génétique)</term>
<term>Surdité (physiopathologie)</term>
<term>Surdité (épidémiologie)</term>
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<term>Deafness</term>
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<term>Mutation</term>
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<term>Connexines</term>
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<term>Surdité</term>
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<div type="abstract" xml:lang="en">Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis. </div>
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<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2016.05.002</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S1769-7212(16)30064-7</ELocationID>
<Abstract>
<AbstractText>Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis. </AbstractText>
<CopyrightInformation>Copyright © 2016 Elsevier Masson SAS. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Bakhchane</LastName>
<ForeName>Amina</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Bousfiha</LastName>
<ForeName>Amale</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Charoute</LastName>
<ForeName>Hicham</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Salime</LastName>
<ForeName>Sara</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Detsouli</LastName>
<ForeName>Mustapha</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Snoussi</LastName>
<ForeName>Khalid</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Nadifi</LastName>
<ForeName>Sellama</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Kabine</LastName>
<ForeName>Mostafa</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Laboratoire de Biochimie et Biologie Moléculaire, Université Hassan II, Faculté des Sciences Aïn Chock, Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Rouba</LastName>
<ForeName>Hassan</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Dehbi</LastName>
<ForeName>Hind</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Roky</LastName>
<ForeName>Rachida</ForeName>
<Initials>R</Initials>
<AffiliationInfo>
<Affiliation>Université Hassan II Ain Chock, Laboratoire de Physiologie et génétique moléculaire, Km 8 Route d'El Jadida, B.P 5366 Maarif, Casablanca, 20100, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Charif</LastName>
<ForeName>Majida</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Barakat</LastName>
<ForeName>Abdelhamid</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2016</Year>
<Month>05</Month>
<Day>08</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo>
<Country>Netherlands</Country>
<MedlineTA>Eur J Med Genet</MedlineTA>
<NlmUniqueID>101247089</NlmUniqueID>
<ISSNLinking>1769-7212</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D017630">Connexins</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C000607042">GJB2 protein, human</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList>
<SupplMeshName Type="Disease" UI="C580334">Nonsyndromic Deafness</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList>
<MeshHeading>
<DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D017630" MajorTopicYN="N">Connexins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003638" MajorTopicYN="N">Deafness</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D018740" MajorTopicYN="Y">Genetic Heterogeneity</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D009018" MajorTopicYN="N" Type="Geographic">Morocco</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM">
<Keyword MajorTopicYN="N">GJB2</Keyword>
<Keyword MajorTopicYN="N">Hearing loss</Keyword>
<Keyword MajorTopicYN="N">Morocco</Keyword>
<Keyword MajorTopicYN="N">Mutation</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData>
<History>
<PubMedPubDate PubStatus="received">
<Year>2015</Year>
<Month>12</Month>
<Day>15</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised">
<Year>2016</Year>
<Month>04</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted">
<Year>2016</Year>
<Month>05</Month>
<Day>04</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez">
<Year>2016</Year>
<Month>5</Month>
<Day>13</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed">
<Year>2016</Year>
<Month>5</Month>
<Day>14</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline">
<Year>2017</Year>
<Month>2</Month>
<Day>12</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList>
<ArticleId IdType="pubmed">27169813</ArticleId>
<ArticleId IdType="pii">S1769-7212(16)30064-7</ArticleId>
<ArticleId IdType="doi">10.1016/j.ejmg.2016.05.002</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations>
<list>
<country>
<li>Maroc</li>
</country>
</list>
<tree>
<country name="Maroc">
<noRegion>
<name sortKey="Bakhchane, Amina" sort="Bakhchane, Amina" uniqKey="Bakhchane A" first="Amina" last="Bakhchane">Amina Bakhchane</name>
</noRegion>
<name sortKey="Barakat, Abdelhamid" sort="Barakat, Abdelhamid" uniqKey="Barakat A" first="Abdelhamid" last="Barakat">Abdelhamid Barakat</name>
<name sortKey="Bousfiha, Amale" sort="Bousfiha, Amale" uniqKey="Bousfiha A" first="Amale" last="Bousfiha">Amale Bousfiha</name>
<name sortKey="Charif, Majida" sort="Charif, Majida" uniqKey="Charif M" first="Majida" last="Charif">Majida Charif</name>
<name sortKey="Charoute, Hicham" sort="Charoute, Hicham" uniqKey="Charoute H" first="Hicham" last="Charoute">Hicham Charoute</name>
<name sortKey="Dehbi, Hind" sort="Dehbi, Hind" uniqKey="Dehbi H" first="Hind" last="Dehbi">Hind Dehbi</name>
<name sortKey="Detsouli, Mustapha" sort="Detsouli, Mustapha" uniqKey="Detsouli M" first="Mustapha" last="Detsouli">Mustapha Detsouli</name>
<name sortKey="Kabine, Mostafa" sort="Kabine, Mostafa" uniqKey="Kabine M" first="Mostafa" last="Kabine">Mostafa Kabine</name>
<name sortKey="Nadifi, Sellama" sort="Nadifi, Sellama" uniqKey="Nadifi S" first="Sellama" last="Nadifi">Sellama Nadifi</name>
<name sortKey="Roky, Rachida" sort="Roky, Rachida" uniqKey="Roky R" first="Rachida" last="Roky">Rachida Roky</name>
<name sortKey="Rouba, Hassan" sort="Rouba, Hassan" uniqKey="Rouba H" first="Hassan" last="Rouba">Hassan Rouba</name>
<name sortKey="Salime, Sara" sort="Salime, Sara" uniqKey="Salime S" first="Sara" last="Salime">Sara Salime</name>
<name sortKey="Snoussi, Khalid" sort="Snoussi, Khalid" uniqKey="Snoussi K" first="Khalid" last="Snoussi">Khalid Snoussi</name>
</country>
</tree>
</affiliations>
</record>

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