A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

Muhammad Jawad Hassan, Regie Lyn P. Santos, Muhammad Arshad Rafiq, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Nadine Hijab, Michael Wambangco, Kwanghyuk Lee, Muhammad Ansar, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for ∼75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants.

Original languageEnglish (US)
Pages (from-to)605-610
Number of pages6
JournalHuman genetics
Volume118
Issue number5
DOIs
StatePublished - Jan 1 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Hassan, M. J., Santos, R. L. P., Rafiq, M. A., Chahrour, M. H., Pham, T. L., Wajid, M., Hijab, N., Wambangco, M., Lee, K., Ansar, M., Yan, K., Ahmad, W., & Leal, S. M. (2006). A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Human genetics, 118(5), 605-610. https://doi.org/10.1007/s00439-005-0079-8