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Article

Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.

Molecular biology reports - 1 Jul 2020

Meenu S, Pradeep B, Ramalingam Sudha, Sairam Thiagarajan, Rai Reena, Sankaran Ramalingam

Abstract excerpt

Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C (CTSC) gene. This article reports a 15-year old male proband with typical PLS traits having a novel compound heterozygote with p.Q49X mutation in exon 1 and p.Y259C missense mutation in exon 6 of CTSC gene respectively. The exon 1 mutation, p.Q49X,...

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PMID: 32601924
DOI: 10.1007/s11033-020-05622-0

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