Genetics and Alstrom syndrome

Genetic Changes

Mutations in the ALMS1 gene cause Alstrom syndrome . The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alstrom syndrome affect many parts of the body.

Source: GHR (NLM/NIH)1

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Back to: « Alstrom syndrome

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Inheritance Pattern

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 signs and symptoms of the condition.

Source: GHR (NLM/NIH)2

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Learn more about the gene associated with Alstrom syndrome

  • ALMS1

Source: GHR (NLM/NIH)3

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Inheritance

Alstrom syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the ALMS1 gene in each cell.[1]

Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated: 6/14/2016

Source: GARD (NIH)4

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Modes of inheritance

Autosomal recessive inheritance (HPO, OMIM, Orphanet)

Source: GTR (NCBI/NIH)5

Inheritance of Alstrom syndrome

Genetic and familial features of the condition may include:6 Genetics of Alstrom Syndrome:

  • Autosomal recessive inheritance


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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alstrom-syndrome
  2. ibid.
  3. ibid.
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5787/ alstrom-syndrome
  5. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0268425/ 
  6. Source: Human Phenotype Ontology

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.