ORIGINAL ARTICLE

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

Yuzhou Zhang¹, Mahdi Malekpour², Navid Al-Madani³, Kimia Kahrizi², Marvam Zanganeh³, Marzieh Mohseni², Faezeh Mojahedi⁴, Ahmad Daneshi⁵, Hossein Najmabadi², Richard J H Smith¹

¹ Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA
² Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
³ Kariminajan-Najmabadi Pathology and Genetics Center, Tehran, Iran
⁴ Welfare Organization, Tehran, Iran
⁵ Research Center of Ear, Nose, Throat and Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran

Correspondence to:
Richard J H Smith
Department of Otolaryngology, 120 Hawkins Drive, Iowa City, IA 52240, USA;Richard-smith{at}uiowa.edu

Background: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3.

Methods: Three families with a novel syndrome characterised by deafness and infertility are described. These three families do not share a common ancestor and do not share identical deletions. Linkage was established by completing a genome-wide scan and candidate genes in the linked region were screened by direct sequencing.

Results: 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, although congenital dyserythropoietic anaemia type I (CDAI) was also present, presumably due to a second deletion in another genomic region.

Conclusion: 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.

Abbreviations: CDAI, congenital dyserythropoietic anaemia type I; DIS, deafness-infertility syndrome; PCR, polymerase chain reaction; STRP marker, short tandem repeat polymorphic marker

Keywords: CATSPER2; contiguous gene deletion; deafness-infertility syndrome; DIS; STRC; syndromic hearing loss

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