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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s12206-016-1034-4

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1432-1203

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The autosomal recessive nonsyndromic deafness locu

Authors: Quratul Ain Sabiha Nazli Saima Riazuddin Ateequl Jaleel S Amer Riazuddin Ahmad U Zafar Shaheen N Khan Tayyab Husnain Andrew J Griffith Zubair M Ahmed Thomas B Friedman Sheikh Riazuddin
Publish Date: 2007/08/10
Volume: 122, Issue: 5, Pages: 445-450
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Abstract

We ascertained three consanguineous Pakistani families PKDF291 PKDF335 and PKDF793 segregating nonsyndromic recessive hearing loss The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe whereas it is profound in PKDF291 The maximum twopoint LOD scores are 301 D19S1034 385 D19S894 and 371 D19S894 for PKDF291 PKDF335 and PKDF793 respectively Haplotype analyses of the three families define a 116 Mb region of overlap of the homozygous linkage intervals bounded by markers D19S216 2001 cM and D19S1034 2075 cM These results define a novel locus DFNB72 on chromosome 19p133 There are at least 22 genes in the 116 Mb interval including PTPRS ZNRF4 and CAPS We identified no pathogenic variants in the exons and flanking intronic sequences of these three genes in affected members of the DFNB72 families DFNB72 is telomeric to DFNB68 the only other known deafness locus with statistically significant support for linkage to chromosome 19pThe authors are grateful to the family members who participated in this research project and to Karen Friderici and Dennis Drayna for their comments and suggestions This study was supported by the Higher Education Commission HEC Islamabad Pakistan EMRO/WHOCOMSTECH and Ministry of Science and Technology MoST Islamabad Pakistan Part of this study was supported by intramural funds 1 Z01 DC00006406 1 ZO1 DC00003509 and 1 ZO1 DC00003909 from the National Institute on Deafness and Other Communication Disorders National Institutes of Health

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