Deafness-infertility syndrome

Definition:

Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes at 15q15.3. The deleted region involves two genes, CATSPER2 and STRC, that are expressed in the sperm and inner ear, respectively.

References:

[1]. Nicole Hoppman, et al. Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3. Mol Cytogenet. 2013 May 6;6(1):19. [Content Brief]

[2]. Nili Avidan, et al. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. [Content Brief]

[3]. Yuzhou Zhang, et al. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. [Content Brief]

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