Genetic basis of Y-linked hearing impairment

Am J Hum Genet. 2013 Feb 7;92(2):301-6. doi: 10.1016/j.ajhg.2012.12.015. Epub 2013 Jan 24.

Abstract

A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y / genetics*
  • Female
  • Gene Rearrangement / genetics
  • Genes, Y-Linked / genetics*
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Pedigree