Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

  title={Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.},
  author={Paolo Gasparini and Xavier Estivill and V{\'i}ctor Volpini and Angela Totaro and Sergi Castellv{\'i}-Bel and Nancy Govea and Montse Mil{\`a} and Matteo Della Monica and Valerio Ventruto and Michele De Benedetto and Pietro Stanziale and Leopoldo Zelante and Elaine S Mansfield and Lodewijk A. Sandkuijl and Saul Surrey and Paolo M Fortina},
  journal={European journal of human genetics : EJHG},
  volume={5 2},
Recent studies show a susceptibility locus (DFNB1) responsible for non-syndromic neurosensory autosomal-recessive deafness (NSRD) mapping to the pericentromeric region of chromosome 13q. In order to better understand the frequency with which DFNB1 is the gene for deafness in our patient population and the role of DFNB1 in Caucasians, we performed a genetic linkage study with four microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were… CONTINUE READING

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