Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study
✍ Scribed by Mijke M. M. Verhagen; James I. Last; Frans B. L. Hogervorst; Dominique F. C. M. Smeets; Nel Roeleveld; Frans Verheijen; Coriene E. Catsman-Berrevoets; Nico M. Wulffraat; Jan M. Cobben; Johan Hiel; Ewout R. Brunt; Els A. J. Peeters; Encarna B. Gómez Garcia; Marjo S. van der Knaap; Carsten R. Lincke; Laura A. E. M. Laan; Marina A. J. Tijssen; Monique A. van Rijn; Danielle Majoor-Krakauer; Marjan Visser; Laura J. van 't Veer; Wim J. Kleijer; Bart P. C. van de Warrenburg; Adilia Warris; Imelda J. M. de Groot; Ronald de Groot; Annegien Broeks; Frank Preijers; Berry H. P. H. Kremer; Corry M. R. Weemaes; Malcolm A. M. R. Taylor; Marcel van Deuren; Michèl A. A. P. Willemsen
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 383 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A-T patients, and additionally measured ATM protein expression
and kinase activity. Patients without ATM kinase activity showed the classical phenotype. The presence of ATM protein, correlated with slightly better immunological function. Residual kinase activity correlated with a milder and essentially