Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Demuth, I; Dutrannoy, V; Marques, W; Neitzel, H; Schindler, D; Dimova, PS; Chrzanowska, KH; Bojinova, V; Gregorek, H; Graul-Neumann, LM; von Moers, A; Schulze, I; Nicke, M; Bora, E; Cankaya, T; Oláh, É; Kiss, C; Bessenyei, B; Szakszon, K; Gruber-Sedlmayr, U; Kroisel, PM; Sodia, S; Goecke, TO; Dörk, T; Digweed, M; Sperling, K; de Sá, J; Lourenco, CM; Varon, R.
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics. 2011; 12(4):273-282
Doi: 10.1007/s10048-011-0299-0
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- Co-authors Med Uni Graz
- Gruber-Sedlmayr Ursula
- Kroisel Peter
- Sodia-Feldner Sigrun
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- Abstract:
- Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T>C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Ataxia Telangiectasia - genetics
- Ataxia Telangiectasia Mutated Proteins -
- Cell Cycle Proteins - genetics
- Child -
- Child, Preschool -
- DNA Mutational Analysis -
- DNA-Binding Proteins - genetics
- Female -
- Haplotypes -
- Humans -
- Male -
- Mutation -
- Phenotype -
- Protein-Serine-Threonine Kinases - genetics
- RNA Splicing -
- Tumor Suppressor Proteins - genetics
- Find related publications in this database (Keywords)
- Ataxia telangiectasia
- ATM
- Mutation screening