• PMID: 21686705
• Gene Name: STRC
• Condition: Infertility
• Association: Deafness-infertility syndrome (DIS) is a new syndromic form of deafness caused by large contiguous gene deletions at 15q15.3. Contiguous gene deletions are related to genomic architecture (e.g. repetitive sequences). Fertility problems in DIS can be treat
• Mutation: Deletion of genes at 15q15.3
• Population size: 3families
• Sex: Male
• Infertility type: Male infertility
• Associated genes: KIAA0377, CKMT1B and CATSPER2
• Other associated phenotypes: Deafness and sperm dysmotility

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ.

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. FAU - Zhang, Yuzhou AU - Zhang Y AD - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA. FAU - Malekpour, Mahdi AU - Malekpour M FAU - Al-Madani, Navid AU - Al-Madani N FAU - Kahrizi, Kimia AU - Kahrizi K FAU - Zanganeh, Marvam AU - Zanganeh M FAU - Mohseni, Marzieh AU - Mohseni M FAU - Mojahedi, Faezeh AU - Mojahedi F FAU - Daneshi, Ahmad AU - Daneshi A FAU - Najmabadi, Hossein AU - Najmabadi H