A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.

[papillon-lefÃ¨vre syndrome]

Papillon-Lefevre syndrome (PLS ; OMlM 245000 ) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC ) gene and is characterized by palmoplantar keratoderma , psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth . CTSC gene is expressed in several tissues including the skin and cells of the immune system . In the skin , CTSC plays a role in differentiation and desquamation , whereas in the immune system , it activates serine proteases .We analysed the molecular basis of PLS in a Pakistani family .G enomic DNA was isolated from the sample according to standard techniques . All exons of the CTSC gene with adjacent sequences of exon-intron borders were amplified by PCR and directly sequenced .We identified a novel deletion mutation designated c .2 ldelG (Leu 7 PhefsX 57 ) in exon 1 of the CTSC gene , which probably results in the absence of CTSC protein .O ur data further expand the spectrum of mutations in the CTSC gene underlying PLS .