CATSPER1-related nonsyndromic male infertility

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.

Autosomal recessive inheritance. Credit: U.S. National Library of Medicine.

Males (with one Y chromosome) who have two CATSPER1 gene variants in each cell have CATSPER1-related nonsyndromic male infertility. Females (with two X chromosomes) 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

Where this page came from

This page was imported from MedlinePlus Genetics, National Library of Medicine. Courtesy of MedlinePlus from the National Library of Medicine; its genetics summaries and the illustrations credited to the library are in the public domain. Pictures credited to others are not copied.

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