Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.


:Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.


Ann Hum Genet


Annals of human genetics


Tlili A,Masmoudi S,Dhouib H,Bouaziz S,Rebeh IB,Chouchen J,Turki K,Benzina Z,Charfedine I,Drira M,Ayadi H




Has Abstract


2007-03-01 00:00:00




Pt 2










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    journal_title:Annals of human genetics

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    journal_title:Annals of human genetics

    pub_type: 杂志文章


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    journal_title:Annals of human genetics

    pub_type: 杂志文章


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    journal_title:Annals of human genetics

    pub_type: 杂志文章


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    journal_title:Annals of human genetics

    pub_type: 杂志文章


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    pub_type: 杂志文章


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    journal_title:Annals of human genetics

    pub_type: 杂志文章


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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    authors: Nishiyama A,Takeshima Y,Zhang Z,Habara Y,Tran TH,Yagi M,Matsuo M

    更新日期:2008-11-01 00:00:00

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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    pub_type: 杂志文章


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