title: Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
abstract: 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.
authors.affiliation: Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Yuzhou
authors.initials: Y
authors.lastname: Zhang
authors.forename: Mahdi
authors.initials: M
authors.lastname: Malekpour
authors.forename: Navid
authors.initials: N
authors.lastname: Al-Madani
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Marvam
authors.initials: M
authors.lastname: Zanganeh
authors.forename: Marzieh
authors.initials: M
authors.lastname: Mohseni
authors.forename: Faezeh
authors.initials: F
authors.lastname: Mojahedi
authors.forename: Ahmad
authors.initials: A
authors.lastname: Daneshi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith