June 26, 2009

Ataxia Telangiectasia heterozygosity: does it implicate any prevention strategy?

Ataxia Telangiectasia, majorly a neurological disorder, can be also reviewed in a chapter about T-cell primary immunodeficiencies.

A-T is a rare autosomal recessive disorder, but 1% of the population is heterozygous for a ATM gene mutation.

There is evidence that heterozygosity gives an increased cancer susceptibility (breast and hematological) and radiosensitivity. (GeneReview Link)

Are there any prevention - screening strategies on family members of people affected with A-T?

No comments:

Post a Comment