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Article

Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.

Dermatology (Basel, Switzerland) - 1 Jan 2009

Kurban Mazen, Wajid Muhammad, Shimomura Yutaka, Bahhady Ruba, Kibbi Abdul-Ghani, Christiano Angela M

Abstract excerpt

BACKGROUND: Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. METHODS: We analyzed the DNA of members...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19816003
DOI: 10.1159/000245341
PMCID: PMC2813799

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.PMID 19816003Read ↗

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Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

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