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Genetics Home Reference: your guide to understanding genetic conditions
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CATSPER1-related nonsyndromic male infertility

Reviewed April 2010

What is CATSPER1-related nonsyndromic male infertility?

CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. Men with CATSPER1-related nonsyndromic male infertility do not have any other symptoms related to this condition.

How common is CATSPER1-related nonsyndromic male infertility?

The prevalence of CATSPER1-related nonsyndromic male infertility is unknown.

What genes are related to CATSPER1-related nonsyndromic male infertility?

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 mutations result in the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. Sperm cells missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. Sperm cells lacking functional CATSPER1 protein cannot push through the outside membrane of the egg cell. As a result, sperm cells cannot reach the inside of the egg cell to achieve fertilization.

Related Gene(s)

Changes in this gene are associated with CATSPER1-related nonsyndromic male infertility.

  • CATSPER1

How do people inherit CATSPER1-related nonsyndromic male infertility?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show symptoms of the condition.

Males with two CATSPER1 gene mutations in each cell have CATSPER1-related nonsyndromic male infertility. Females with two CATSPER1 gene mutations in each cell have no symptoms because the mutations only affect sperm function, and women do not produce sperm.

Where can I find information about diagnosis or management of CATSPER1-related nonsyndromic male infertility?

These resources address the diagnosis or management of CATSPER1-related nonsyndromic male infertility and may include treatment providers.

  • Cleveland Clinic: Male Infertility (http://my.clevelandclinic.org/urology-kidney/diseases-conditions/male-infertility.aspx)
  • Gene Review: CATSPER-Related Male Infertility (http://www.ncbi.nlm.nih.gov/books/NBK22925/)
  • Genetic Testing Registry: CATSPER-Related Male Infertility (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751811)
  • Lab Tests Online: Infertility (http://labtestsonline.org/understanding/conditions/infertility/start/2)
  • RESOLVE: The National Infertility Association: Semen Analysis (http://www.resolve.org/diagnosis-management/infertility-diagnosis/the-semen-analysis.html)

You might also find information on the diagnosis or management of CATSPER1-related nonsyndromic male infertility in Educational resources (http://www.ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about CATSPER1-related nonsyndromic male infertility?

You may find the following resources about CATSPER1-related nonsyndromic male infertility helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for CATSPER1-related nonsyndromic male infertility?

  • CATSPER1-related male infertility
  • CATSPER-related nonsyndromic male infertility

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about CATSPER1-related nonsyndromic male infertility?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding CATSPER1-related nonsyndromic male infertility?

autosomal ; autosomal recessive ; cell ; egg ; gene ; infertility ; inherited ; prevalence ; protein ; recessive ; sperm

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/19344877?dopt=Abstract)
  • Gene Review: CATSPER-Related Male Infertility (http://www.ncbi.nlm.nih.gov/books/NBK22925/)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16625279?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2010
Published: July 21, 2014