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Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
  1. Yuzhou Zhang1,
  2. Mahdi Malekpour2,
  3. Navid Al-Madani3,
  4. Kimia Kahrizi2,
  5. Marvam Zanganeh3,
  6. Marzieh Mohseni2,
  7. Faezeh Mojahedi4,
  8. Ahmad Daneshi5,
  9. Hossein Najmabadi2,
  10. Richard J H Smith1
  1. 1Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA
  2. 2Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  3. 3Kariminajan-Najmabadi Pathology and Genetics Center, Tehran, Iran
  4. 4Welfare Organization, Tehran, Iran
  5. 5Research Center of Ear, Nose, Throat and Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran
  1. Correspondence to:
 Richard J H Smith
 Department of Otolaryngology, 120 Hawkins Drive, Iowa City, IA 52240, USA;Richard-smith{at}uiowa.edu

Abstract

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.

  • CDAI, congenital dyserythropoietic anaemia type I
  • DIS, deafness-infertility syndrome
  • PCR, polymerase chain reaction
  • STRP marker, short tandem repeat polymorphic marker
  • CATSPER2
  • contiguous gene deletion
  • deafness-infertility syndrome
  • DIS
  • STRC
  • syndromic hearing loss

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Footnotes

  • Published Online First 10 November 2006

  • This work was supported by the Iranian Deputy of Research and Technology, Ministry of Health and Medical Education Grant (P 6193, HN) and the National Institutes of Health (R01-DC02842, RJHS).

  • Competing interests: None declared.

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