A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-LefÃ¨vre syndrome.

[papillon-lefÃ¨vre syndrome]

Papillon-LefÃ©vre syndrome (PLS ; OMIM 245000 ) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation , causing loss of both the deciduous and permanent teeth . PLS develops due to mutations in the cathepsin C gene , CTSC . Recently we have identified a Hungarian PLS family with two affected siblings . Direct sequencing of the coding regions of the CTSC gene revealed a novel seven -base deletion leading to frameshift and early stop codon in the fourth exon of the CTSC gene (c .681 delCATACAT , p .T 188 fsX 199 ). The affected family members carried the mutation in homozygous form , while the clinically unaffected family members carried the mutation in heterozygous form . The unrelated controls carried only the wild type sequence . In this paper we report a novel homozygous deletion of seven bases on the CTSC gene leading to the development of PLS . Since consanguineous marriage was unknown in the investigated family , the presence of the homozygous seven -base deletion of the CTSC gene may suggest that the parents are close relatives .