Journal article
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
BMJ case reports, Vol.2009(jan21 1), pp.bcr0820080645-bcr0820080645
2009
DOI: 10.1136/bcr.08.2008.0645
PMCID: PMC2598039
PMID: 17098888
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.
Details
- Title: Subtitle
- Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
- Creators
- Yuzhou Zhang - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USAMahdi Malekpour - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranNavid Al-Madani - Kariminajan-Najmabadi Pathology and Genetics Center, Tehran, IranKimia Kahrizi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranMarvam Zanganeh - Kariminajan-Najmabadi Pathology and Genetics Center, Tehran, IranMarzieh Mohseni - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranFaezeh Mojahedi - Welfare Organization, Tehran, IranAhmad Daneshi - Research Center of Ear, Nose, Throat and Head and Neck Surgery, Iran University of Medical Sciences, Tehran, IranHossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranRichard J H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA
- Resource Type
- Journal article
- Publication Details
- BMJ case reports, Vol.2009(jan21 1), pp.bcr0820080645-bcr0820080645
- DOI
- 10.1136/bcr.08.2008.0645
- PMID
- 17098888
- PMCID
- PMC2598039
- NLM abbreviation
- BMJ Case Rep
- ISSN
- 1757-790X
- eISSN
- 1757-790X
- Language
- English
- Date published
- 2009
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006482202771
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