Genetic Basis of Y-Linked Hearing Impairment

• Published in: American journal of human genetics 2013-02, Vol.92 (2), p.301-306
• Main Authors: Wang, Qiuju, Xue, Yali, Zhang, Yujun, Long, Quan, Yang, Fengtang, Turner, Daniel J., Fitzgerald, Tomas, Ng, Bee Ling, Zhao, Yali, Chen, Yuan, Liu, Qingjie, Yang, Weiyan, Han, Dongyi, Quail, Michael A., Swerdlow, Harold, Burton, John, Fahey, Ciara, Ning, Zemin, Hurles, Matthew E., Carter, Nigel P., Yang, Huanming, Tyler-Smith, Chris
• Format: Article
• Language: English
• Subjects: Chromosomes; Chromosomes, Human, Y - genetics; Deafness; Female; Gene Rearrangement - genetics; Genes, Y-Linked - genetics; Genetics; Genotype & phenotype; Hearing Loss - genetics; Humans; Male; Pedigree
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1016/j.ajhg.2012.12.015

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.