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DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

ABSTRACT: From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two families was bounded by D19S586 and D19S584, which limits the locus interval to 1.9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants.

SUBMITTER: Santos RL 

PROVIDER: S-EPMC2909094 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature

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DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

Santos Regie Lyn P RL   Hassan Muhammad Jawad MJ   Sikandar Shaheen S   Lee Kwanghyuk K   Lee Kwanghyuk K   Ali Ghazanfar G   Martin Protacio E PE   Wambangco Michael Angelo L MA   Ahmad Wasim W   Leal Suzanne M SM  

Human genetics 20060516 1

From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two  ...[more]