Deafness-infertility syndrome
Dernière mise à jour 6 mars 2025
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Deafness-infertility syndrome is a condition characterised 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.
Description
Deafness-infertility syndrome is a condition characterised 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Chromosome 15q15.3 deletion syndrome
DIS
Sensorineural deafness and infertility
Sensorineural deafness and male infertility
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Lectures complémentaires et références
- Deafness-infertility syndrome; MedlinePlus, National Library of Medicine.
- 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.
- 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 CATSPER-Related Male Infertility - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Dec 3 [updated 2017 Mar 23].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, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK22925/
- 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.
- 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.
- 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.
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