DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2 |
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| Authors: | Regie Lyn P Santos Muhammad Jawad Hassan Shaheen Sikandar Kwanghyuk Lee Ghazanfar Ali Protacio E Martin Jr Michael Angelo L Wambangco Wasim Ahmad Suzanne M Leal |
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| Institution: | (1) Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619.01, Houston, TX 77030, USA;(2) Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan;(3) Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Centre, Rotterdam, The Netherlands |
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| 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.Regie Lyn P. Santos and Muhammad Jawad Hassan contributed equally to this work. |
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