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Deafness-infertility syndrome

Disease ID:274
Name:Deafness-infertility syndrome
Associated with:1 target
Deafness, sensineural, and male infertility
Database Links
OMIM: 611102
Orphanet: ORPHA94064


Role:  Male infertility segregating with sensorineural deafness.
Comments:  This syndrome is caused by a large contiguous gene deletion at 15q15.3 including four genes (KIAA0377, CKMT1B, STRC and CATSPER2). Identified in 3 French brothers with type I CDA, asthenoteratozoospermia, and nonsyndromic deafness who were homozygous for an approximately 70-kb deletion which removed the entire STRC gene and the last 2 exons (225 bp) of the CATSPER2 gene.
References:  1,3
Mutations:  CatSper2 is associated with 2 mutation. Click here for details


No ligand related data available for Deafness-infertility syndrome


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1. Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L et al.. (2003) CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet, 11 (7): 497-502. [PMID:12825070]

2. Lucas JB, Salyer RD, Watson DW. (2003) Gangrenous primary cutaneous mucormycosis of the scalp in an iatrogenically immunosuppressed trauma patient. Otolaryngol Head Neck Surg, 128 (6): 912-4. [PMID:12825050]

3. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H et al.. (2007) Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet, 44 (4): 233-40. [PMID:17098888]