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

  title={Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32‐p11.31},
  author={A. Mir and M. Ansar and M. Chahrour and T. Pham and M. Wajid and S. Haque and K. Yan and W. Ahmad and S. Leal},
  journal={American Journal of Medical Genetics Part A},
  • A. Mir, M. Ansar, +6 authors S. Leal
  • Published 2005
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
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… Expand
9 Citations
Non‐syndromic, autosomal‐recessive deafness
Genetic Hearing Loss and Gene Therapy


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