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Description
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to difficulty conceiving children (a condition called infertility). People with this condition produce sperm that have decreased movement (motility). Affected individuals may also produce fewer sperm cells or sperm cells that are abnormally shaped. These sperm abnormalities prevent people with this condition from conceiving without assisted reproductive technologies.
Frequency
The prevalence of CATSPER1-related nonsyndromic male infertility is unknown.
Causes
Variants (also called mutations) in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization.
CATSPER1 gene variants cause sperm cells to produce altered versions of the CATSPER1 protein that are not functional or that can be quickly broken down (degraded) by the cell. Sperm cells that are missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. These sperm cells cannot push through the outside membrane of the egg cell. As a result, the sperm cells cannot reach the inside of the egg cell to achieve fertilization.
Inheritance
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
People with one Y chromosome (typical for males) who have two CATSPER1 gene variants in each cell have CATSPER1-related nonsyndromic male infertility. People with two X chromosomes (typical for females) who have two CATSPER1 gene variants in each cell have no symptoms because they do not produce sperm and the changes only affect sperm function.
Other Names for This Condition
- CATSPER-related nonsyndromic male infertility
- CATSPER1-related male infertility
Additional Information & Resources
Genetic Testing Information
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. Citation on PubMed or Free article on PubMed Central
- 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
- Jalalabadi FN, Cheraghi E, Janatifar R, Momeni HR. The Detection of CatSper1 and CatSper3 Expression in Men with Normozoospermia and Asthenoteratozoospermia and Its Association with Sperm Parameters, Fertilization Rate, Embryo Quality. Reprod Sci. 2024 Mar;31(3):704-713. doi: 10.1007/s43032-023-01397-4. Epub 2023 Nov 13. Citation on PubMed
- Li HG, Liao AH, Ding XF, Zhou H, Xiong CL. The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. Asian J Androl. 2006 May;8(3):301-6. doi: 10.1111/j.1745-7262.2006.00132.x. Citation on PubMed
- Singh AP, Rajender S. CatSper channel, sperm function and male fertility. Reprod Biomed Online. 2015 Jan;30(1):28-38. doi: 10.1016/j.rbmo.2014.09.014. Epub 2014 Oct 8. Citation on PubMed
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