Article
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Neuromolecular medicine - 1 Sept 2013
Claes Kathleen, Depuydt Julie, Taylor A Malcolm R, Last James I, Baert Annelot, Schietecatte Peter, Vandersickel Veerle, Poppe Bruce, De Leeneer Kim, D'Hooghe Marc, Vral Anne
Abstract excerpt
Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosensitivity and kinase assays with clinical and molecular data from a patient with variant A-T and relatives. The coding region of ATM was sequenced. To evaluate the functional effect of the mutations, we performed kinase assays and developed a novel S-G2 micronucleus test. Our patient presented with mild dystonia,...
Topics
- Adult
- Amino Acid Substitution
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Breast Neoplasms
- Caffeine
- Child
- Exons
- Female
- G2 Phase