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Article

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

Journal of medical genetics - 1 Dec 1999

Hart T C, Hart P S, Bowden D W, Michalec M D, Callison S A, Walker S J, Zhang Y, Firatli E

Abstract excerpt

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14. Correlation of physical and genetic maps of this interval indicate it includes at least 40 ESTs and six...

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Identifiers

PMID: 10593994
PMCID: PMC1734286

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.

Related research

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Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.PMID 10593994Read ↗

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndromeSemantic proximity Read ↗

Cathepsin-C (CTSC) Gene Mutations in Papillon-Lefevre Syndrome in India.Semantic proximity Read ↗

Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.Semantic proximity Read ↗

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.Semantic proximity Read ↗

Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.Semantic proximity Read ↗

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.Semantic proximity Read ↗

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.Semantic proximity Read ↗

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

A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.Semantic proximity Read ↗

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.Semantic proximity Read ↗

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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