What causes ataxia-telangiectasia?

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Answer

DNA processing or repair protein is the suspected common denominator in ataxia-telangiectasia.

Ataxia-telangiectasia is inherited as autosomal recessive. Ataxia-telangiectasia is caused by mutations in the ATM (ataxia telangiectasia mutated) gene, which has been localized to band 11q22-23. [3] Each parent is a carrier, meaning that they have 1 normal copy of ATM and 1 copy that is mutated. Ataxia-telangiectasia occurs if a child inherits the mutated ATM gene from each parent, so in a family with 2 carrier parents, there is 1 in 4 chance that a child born to the parents will have ataxia-telangiectasia. [4]

Ataxia-telangiectasia–like disorder (ATLD) is a rarer disease, caused by a mutation in the hMre11 gene. [5] Patients with ATLD are very similar to those with ataxia-telangiectasia except they do not have telangiectasia, have normal immunoglobulins, and have a slower progression of symptoms. [4]


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