RT Journal Article T1 A genetic study of cathepsin C gene in two families with Papillon–Lefèvre syndrome A1 Moreno, Ángel A1 Allende Martínez, Luis Miguel A1 Unamuno, Pablo AB Papillon-Lefèvre syndrome (PLS) is an inherited human disorder characterised by premature destruction of the periodontium of the deciduous and permanent teeth, palmoplantar hyperkeratosis, and increased susceptibility to bacterial infections during the first years of life. In this paper two PLS families have been studied. Family 1 presents a novel homozygous mutation (880T>C) in exon 6 causing Y294H amino acid substitution. Family 2 shows a previously described non-sense homozygous punctual change (72C>A) that introduces a termination codon at the extracellular domain of the protein (C24X). PB Elsevier SN 1096-7192 YR 2003 FD 2003-06-01 LK https://hdl.handle.net/20.500.14352/98119 UL https://hdl.handle.net/20.500.14352/98119 LA eng NO Allende LM, Moreno A, de Unamuno P. A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. Mol Genet Metab. 2003 Jun;79(2):146-8. doi: 10.1016/s1096-7192(03)00070-2. PMID: 12809647. DS Docta Complutense RD 18 abr 2025