Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Asif Mir, Muhammad Ansar, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad, Suzanne M. Leal

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3 Scopus citations


Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

Original languageEnglish (US)
Pages (from-to)23-26
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number1
Publication statusPublished - Feb 15 2005



  • 18p11.32-p11.31
  • DFNB19
  • DFNB46
  • Nonsyndromic deafness
  • Pakistan

ASJC Scopus subject areas

  • Genetics(clinical)

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