Nová mutace v genu pro katepsin C v české rodině s Papillon-Lefevre syndromem

Warning

This publication doesn't include Faculty of Sports Studies. It includes Faculty of Medicine. Official publication website can be found on muni.cz.

Title in English	New mutation in the cathepsin C gene in Czech family with Papillon-Lefevre syndrome
Authors	IZAKOVIČOVÁ HOLLÁ Lydie KUKLETOVÁ Martina FASSMANN Antonín SAZMOVÁ Věra VANĚK Jiří
Year of publication	2007
Type	Article in Proceedings
Conference	VI. Jindřichohradecké dny - abstrakta
MU Faculty or unit	Faculty of Medicine
Citation
Field	ORL, ophthalmology, stomatology
Keywords	gene; mutation; Papillon-Lefevre syndrome; cathepsin C
Description	Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS.
Related projects:	Analýza polymorfizmů v genech prozánětlivých a remodelačních faktorů ve vztahu k imunitní reakci a klinickému stavu pacientů s parodontitidou