A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Identifieur interne : 000024 ( Main/Exploration ); précédent : 000023; suivant : 000025A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Auteurs : Abdelaziz Tlili [Tunisie] ; Minna M Nnikkö ; Ilhem Charfedine ; Imed Lahmar ; Zeineb Benzina ; Mohamed Ben Amor ; Nabil Driss ; Leena Ala-Kokko ; Mohamed Drira ; Saber Masmoudi ; Hammadi AyadiSource :
- Human heredity [ 0001-5652 ] ; 2005.
Descripteurs français
- KwdFr :
- Amorces ADN (MeSH), Analyse de mutations d'ADN (MeSH), Analyse de séquence d'ADN (MeSH), Cartographie chromosomique (MeSH), Chromosomes humains de la paire 6 (génétique), Gènes récessifs (génétique), Humains (MeSH), Lod score (MeSH), Pedigree (MeSH), Répétitions microsatellites (génétique), Surdité (génétique), Tunisie (MeSH), Étiquettes de séquences exprimées (MeSH).
- MESH :
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- Chromosome Mapping (MeSH), Chromosomes, Human, Pair 6 (genetics), DNA Mutational Analysis (MeSH), DNA Primers (MeSH), Deafness (genetics), Expressed Sequence Tags (MeSH), Genes, Recessive (genetics), Humans (MeSH), Lod Score (MeSH), Microsatellite Repeats (genetics), Pedigree (MeSH), Sequence Analysis, DNA (MeSH), Tunisia (MeSH).
- MESH :
- chemical : DNA Primers.
- geographic : Tunisia.
- genetics : Chromosomes, Human, Pair 6, Deafness, Genes, Recessive, Microsatellite Repeats.
- Chromosome Mapping, DNA Mutational Analysis, Expressed Sequence Tags, Humans, Lod Score, Pedigree, Sequence Analysis, DNA.
Abstract
Hereditary non-syndromic deafness is extremely heterogeneous. Autosomal recessive forms account for approximately 80% of genetic cases. Autosomal recessive non-syndromic sensorineural deafness segregating in a large consanguineous Tunisian family was mapped to chromosome 6p21.2-22.3. A maximum lod score of 5.36 at theta=0 was obtained for the polymorphic microsatellite marker IR2/IR4. Haplotype analysis defined a 16.5-Mb critical region between microsatellite markers D6S1602 and D6S1665. The screening of 3 candidate genes, COL11A2, BAK1 and TMHS, did not reveal any disease causing mutation, suggesting that this is a novel deafness locus, which has been named DFNB66. A search in the Human Cochlear EST Library for ESTs located in this critical interval allowed us to identify several candidates. Further investigations on these candidates are needed in order to identify the deafness-causing gene in this Tunisian family.
DOI: 10.1159/000088974
PubMed: 16244493
Affiliations:
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Le document en format XML
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Charfedine</name></author><author><name sortKey="Lahmar, Imed" sort="Lahmar, Imed" uniqKey="Lahmar I" first="Imed" last="Lahmar">Imed Lahmar</name></author><author><name sortKey="Benzina, Zeineb" sort="Benzina, Zeineb" uniqKey="Benzina Z" first="Zeineb" last="Benzina">Zeineb Benzina</name></author><author><name sortKey="Ben Amor, Mohamed" sort="Ben Amor, Mohamed" uniqKey="Ben Amor M" first="Mohamed" last="Ben Amor">Mohamed Ben Amor</name></author><author><name sortKey="Driss, Nabil" sort="Driss, Nabil" uniqKey="Driss N" first="Nabil" last="Driss">Nabil Driss</name></author><author><name sortKey="Ala Kokko, Leena" sort="Ala Kokko, Leena" uniqKey="Ala Kokko L" first="Leena" last="Ala-Kokko">Leena Ala-Kokko</name></author><author><name sortKey="Drira, Mohamed" sort="Drira, Mohamed" uniqKey="Drira M" first="Mohamed" last="Drira">Mohamed Drira</name></author><author><name sortKey="Masmoudi, Saber" sort="Masmoudi, Saber" uniqKey="Masmoudi S" first="Saber" last="Masmoudi">Saber 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uniqKey="Charfedine I" first="Ilhem" last="Charfedine">Ilhem Charfedine</name></author><author><name sortKey="Lahmar, Imed" sort="Lahmar, Imed" uniqKey="Lahmar I" first="Imed" last="Lahmar">Imed Lahmar</name></author><author><name sortKey="Benzina, Zeineb" sort="Benzina, Zeineb" uniqKey="Benzina Z" first="Zeineb" last="Benzina">Zeineb Benzina</name></author><author><name sortKey="Ben Amor, Mohamed" sort="Ben Amor, Mohamed" uniqKey="Ben Amor M" first="Mohamed" last="Ben Amor">Mohamed Ben Amor</name></author><author><name sortKey="Driss, Nabil" sort="Driss, Nabil" uniqKey="Driss N" first="Nabil" last="Driss">Nabil Driss</name></author><author><name sortKey="Ala Kokko, Leena" sort="Ala Kokko, Leena" uniqKey="Ala Kokko L" first="Leena" last="Ala-Kokko">Leena Ala-Kokko</name></author><author><name sortKey="Drira, Mohamed" sort="Drira, Mohamed" uniqKey="Drira M" first="Mohamed" last="Drira">Mohamed Drira</name></author><author><name sortKey="Masmoudi, Saber" sort="Masmoudi, Saber" uniqKey="Masmoudi S" first="Saber" last="Masmoudi">Saber Masmoudi</name></author><author><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name></author></analytic><series><title level="j">Human heredity</title><idno type="ISSN">0001-5652</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Mapping (MeSH)</term><term>Chromosomes, Human, Pair 6 (genetics)</term><term>DNA Mutational Analysis (MeSH)</term><term>DNA Primers (MeSH)</term><term>Deafness (genetics)</term><term>Expressed Sequence Tags (MeSH)</term><term>Genes, Recessive (genetics)</term><term>Humans (MeSH)</term><term>Lod Score (MeSH)</term><term>Microsatellite Repeats (genetics)</term><term>Pedigree (MeSH)</term><term>Sequence Analysis, DNA (MeSH)</term><term>Tunisia (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Amorces ADN (MeSH)</term><term>Analyse de mutations d'ADN (MeSH)</term><term>Analyse de séquence d'ADN (MeSH)</term><term>Cartographie chromosomique (MeSH)</term><term>Chromosomes humains de la paire 6 (génétique)</term><term>Gènes récessifs (génétique)</term><term>Humains (MeSH)</term><term>Lod score (MeSH)</term><term>Pedigree (MeSH)</term><term>Répétitions microsatellites (génétique)</term><term>Surdité (génétique)</term><term>Tunisie (MeSH)</term><term>Étiquettes de séquences exprimées (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>DNA Primers</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 6</term><term>Deafness</term><term>Genes, Recessive</term><term>Microsatellite Repeats</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 6</term><term>Gènes récessifs</term><term>Répétitions microsatellites</term><term>Surdité</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>DNA Mutational Analysis</term><term>Expressed Sequence Tags</term><term>Humans</term><term>Lod Score</term><term>Pedigree</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Amorces ADN</term><term>Analyse de mutations d'ADN</term><term>Analyse de séquence d'ADN</term><term>Cartographie chromosomique</term><term>Humains</term><term>Lod score</term><term>Pedigree</term><term>Tunisie</term><term>Étiquettes de séquences exprimées</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary non-syndromic deafness is extremely heterogeneous. Autosomal recessive forms account for approximately 80% of genetic cases. Autosomal recessive non-syndromic sensorineural deafness segregating in a large consanguineous Tunisian family was mapped to chromosome 6p21.2-22.3. A maximum lod score of 5.36 at theta=0 was obtained for the polymorphic microsatellite marker IR2/IR4. Haplotype analysis defined a 16.5-Mb critical region between microsatellite markers D6S1602 and D6S1665. The screening of 3 candidate genes, COL11A2, BAK1 and TMHS, did not reveal any disease causing mutation, suggesting that this is a novel deafness locus, which has been named DFNB66. A search in the Human Cochlear EST Library for ESTs located in this critical interval allowed us to identify several candidates. Further investigations on these candidates are needed in order to identify the deafness-causing gene in this Tunisian family.</div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Ala Kokko, Leena" sort="Ala Kokko, Leena" uniqKey="Ala Kokko L" first="Leena" last="Ala-Kokko">Leena Ala-Kokko</name><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name><name sortKey="Ben Amor, Mohamed" sort="Ben Amor, Mohamed" uniqKey="Ben Amor M" first="Mohamed" last="Ben Amor">Mohamed Ben Amor</name><name sortKey="Benzina, Zeineb" sort="Benzina, Zeineb" uniqKey="Benzina Z" first="Zeineb" last="Benzina">Zeineb Benzina</name><name sortKey="Charfedine, Ilhem" sort="Charfedine, Ilhem" uniqKey="Charfedine I" first="Ilhem" last="Charfedine">Ilhem Charfedine</name><name sortKey="Drira, Mohamed" sort="Drira, Mohamed" uniqKey="Drira M" first="Mohamed" last="Drira">Mohamed Drira</name><name sortKey="Driss, Nabil" sort="Driss, Nabil" uniqKey="Driss N" first="Nabil" last="Driss">Nabil Driss</name><name sortKey="Lahmar, Imed" sort="Lahmar, Imed" uniqKey="Lahmar I" first="Imed" last="Lahmar">Imed Lahmar</name><name sortKey="M Nnikko, Minna" sort="M Nnikko, Minna" uniqKey="M Nnikko M" first="Minna" last="M Nnikkö">Minna M Nnikkö</name><name sortKey="Masmoudi, Saber" sort="Masmoudi, Saber" uniqKey="Masmoudi S" first="Saber" last="Masmoudi">Saber Masmoudi</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Tlili, Abdelaziz" sort="Tlili, Abdelaziz" uniqKey="Tlili A" first="Abdelaziz" last="Tlili">Abdelaziz Tlili</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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