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.
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Acknowledgments
We thank the two families who participated in this research. We are also grateful to Xuan Zhang for assistance with the figures. This work was supported by the Higher Education Commission, Pakistan, and National Institutes of Health, National Institute of Deafness and other Communication Disorders grant R01-DC03594. Genotyping services were provided by the CIDR and the NHLBI Mammalian Genotyping Service (Marshfield, WI, USA). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, Contract Number N01-HG-65403.
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Regie Lyn P. Santos and Muhammad Jawad Hassan contributed equally to this work.
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Santos, R.L.P., Hassan, M.J., Sikandar, S. et al. DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet 120, 85–92 (2006). https://doi.org/10.1007/s00439-006-0188-z
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DOI: https://doi.org/10.1007/s00439-006-0188-z