Tuberous Sclerosis: Optimisati on of its DNA Di agnosing Procedure

Česká verzia

Authors: R. Vrtěl ¹; G. Vo utsinas ²; R. Vodička ¹; H. Filipová ¹; P. Kotlárová ¹; V. Smutná ¹; D. Šimková ¹; D. Konvalinka ¹; A. Šantavá ¹; J. Šantavý ¹
Authors place of work: Ústav lékařské genetiky a fetální medicíny, LF UP a FN Olomo uc ¹; Laboratory of Environmental Mutagenesis and Carcinogenesis, Institute of Bi ology, NCSR “Demokritos”, Aghi a Paraskevi Attikis, Greece ²
Published in the journal: Cesk Slov Neurol N 2008; 71/104(4): 478-482
Category: Short Communication

Zdroj podpory a poděkování: Práce byla řešena jako so učást projektu MŠMT česko- řecké vědecko- technické spolupráce kontaktu č. 7- 2006- 20, ME 923. TSC1 and TSC2 genetic alterati ons in tubero us sclerosis (Genetické změny TSC1 a TSC2 u tuberózní sklerózy, 2006– 2007). Za radu a spolupráci děkujeme dr. D. Halley a dr. A. van Ouweland z pracoviště Klinické genetiky Erasmovy Univerzity Rotterdam, Holandsko.

Summary

The go al of the study is to inform abo ut clinical and genetic aspects of tuberuos sclerosis, to po int o ut the benefit of genetic testing as well as its limits, and to inform abo ut the optimised genetic testing procedure. Tubero us sclerosis is an a utosomally dominant hereditary ne urocutaneo us dise ase with extremely vari able clinical manifestati ons. The dise ase results from mutati on in one of the two tumo ur- suppressor genes, i.e. TSC1 or TSC2. A wide range of ca usal mutati ons with random distributi on in the responsible genes has been described. The proposed DNA examinati on procedure was designed on the basis of knowledge obtained from the analysis of 65 samples from Czech pati ents and by tests performed on 53 positive control samples from partner centres abro ad. The basic criteri a for the selecti on of the best procedure for DNA di agnosis in TSC pati ents was economy, effici ency and laboratory capacity.

Key words:
tubero us sclerosis – tumo ur- suppressor gene – mutati on screening – sequence analysis – epilepsy – psychomotor retardati on

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