Alstrom syndrome

Inheritance

How is Alstrom syndrome inherited?

Alstrom syndrome has autosomal recessive inheritance. It is caused by changes in the [I]ALMS1 gene. Everyone has two copies of the ALMS1 gene; one inherited from their father and one from their mother. Autosomal recessive inheritance means that a person has two non-working copies of the ALMS1 gene - one from each parent. Parents of a child with Alstrom syndrome have one working copy of the [I]ALMS1 gene and one non-working copy. They are carriers for Alstrom syndrome. Carriers do not develop symptoms of the disorder. If two people who are carriers have Alstrom syndrome have a child, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier.

If you have a family member with Alstrom syndrome and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Visit the National Society of Genetic Counselors, which has a Find A Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States.

References
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021 https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • MedlinePlus Genetics. (2021, February). Alstrom Syndrome. Accessed on February 23, 2021 from https://medlineplus.gov/genetics/condition/alstrom-syndrome/
Show More Content Like This

More Inheritance Content

What does it mean to have inherited a variant in the gene for Alstrom syndrome?

Can my child still have Alstrom syndrome without having two ALMS1 gene mutations?

What does it mean to have inherited a variant in the gene for Alstrom syndrome?

A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease-causing), pathogenic (disease-causing), or of unknown significance (possibly disease-causing). Genetic testing of the [I]ALMS1 gene can be helpful to determine what type of variant or genetic change someone has inherited for Alstrom syndrome.

People with Alstrom syndrome have two disease-causing variants in both of their ALMS1 genes.

Visit the National Society of Genetic Counselors, which has a Find A Genetic Counselor tool on its website. This tool can help people find a genetic counselor within the United States.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • MedlinePlus Genetics. (2021, February). Alstrom Syndrome. Accessed on February 23, 2021 from https://medlineplus.gov/genetics/condition/alstrom-syndrome/
Can my child still have Alstrom syndrome without having two ALMS1 gene mutations?

Changes (variants) in the ALMS1 gene are the only known cause of Alstrom syndrome. Children with this disorder have changes in both copies of their ALMS1 genes. People with a single disease-causing change in one of their ALMS1 gene are called "carriers" for this disorder.

Disease-causing changes in genes are sometimes called pathogenic variants. They used to be called mutations but that term is no longer used.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • MedlinePlus Genetics. (2021, February). Alstrom Syndrome. Accessed on February 23, 2021 from https://medlineplus.gov/genetics/condition/alstrom-syndrome/

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me