
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
Author(s) -
Yuzhou Zhang,
Mahdi Malekpour,
Navid Almadani,
Kimia Kahrizi,
Marvam Zanganeh,
Marzieh Mohseni,
Faezeh Mojahedi,
Ahmad Daneshi,
Hossein Najmabadi,
Richard J.H. Smith
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.08.2008.0645
Subject(s) - genetics , infertility , gene , male infertility , biology , genetic linkage , sensorineural hearing loss , hearing loss , human genetics , phenotype , candidate gene , medicine , audiology , pregnancy
Syndromic hearing loss that results from contiguous gene deletions is uncommon.Three families with a novel syndrome characterised by deafness and infertility are described. Linkage was established by completing a genome-wide scan and candidate genes in the linked region were screened by direct sequencing. The deleted region is about 100 kb long and involves four genes (KIAA0377, CKMT1B, STRC and CATSPER2), each of which has a telomeric duplicate. This genomic architecture underlies the mechanism by which these deletions occur. CATSPER2 and STRC are expressed in the sperm and inner ear, respectively, consistent with the phenotype in persons homozygous for this deletion. A deletion of this region has been reported in one other family segregating male infertility and sensorineural deafness. We have identified three families segregating an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This new syndrome is caused by the deletion of contiguous genes at 15q15.3.