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Description
Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.
Frequency
The prevalence of deafness-infertility syndrome is unknown. It is likely under diagnosed in people with hearing loss.
Causes
Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of deafness-infertility syndrome are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of two specific genes on chromosome 15 is responsible for the main features of this condition. The loss of the STRC gene, which plays a role in the generation of nerve impulses that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, is responsible for the sperm abnormalities. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.
Inheritance
Deafness-infertility syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with deafness-infertility syndrome each carry one copy of the chromosome 15 deletion, but they typically do not show symptoms of the condition.
People with one Y chromosome (typical for males) who have two chromosome 15 deletions in each cell have deafness-infertility syndrome. People with two X chromosomes (typical for females) who have two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom. They do not produce sperm and so are not affected by the CATSPER2 gene deletions.
Other Names for This Condition
- Chromosome 15q15.3 deletion syndrome
- DIS
- Sensorineural deafness and infertility
- Sensorineural deafness and male infertility
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991. Citation on PubMed
- Hildebrand MS, Avenarius MR, Smith RJH. CATSPER-Related Male Infertility - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK22925/ Citation on PubMed
- Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5. Citation on PubMed
- Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE, Garbers DL. Hyperactivated sperm motility driven by CatSper2 is required for fertilization. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14869-74. doi: 10.1073/pnas.2136654100. Epub 2003 Dec 1. Citation on PubMed or Free article on PubMed Central
- Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. Erratum In: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added]. Citation on PubMed or Free article on PubMed Central
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