DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3 |
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| Authors: | Shahid Yar Khan Saima Riazuddin Mohsin Shahzad Nazir Ahmed Ahmad Usman Zafar Atteeq Ur Rehman Robert J Morell Andrew J Griffith Zubair M Ahmed Sheikh Riazuddin Thomas B Friedman |
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| Affiliation: | 1National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan;2Laboratory of Molecular Genetics, Section on Human Genetics, Rockville, MD, USA;3Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA |
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| Abstract: | Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at θ=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23–q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602. |
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| Keywords: | hereditary deafness DFNB79 DFNB33 Pakistan chromosome 9q34.3 |
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