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Article

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Human mutation - 1 Mar 2004

Hewitt Chelsee, McCormick Derek, Linden Gerry, Turk Dusan, Stern Igor, Wallace Ian, Southern Louise, Zhang Liqun, Howard Rebecca, Bullon Pedro, Wong Melanie, Widmer Richard, Gaffar Khaled Abdul, Awawdeh Lama, Briggs Jim, Yaghmai Reza, Jabs Ethlin W, Hoeger Peter, Bleck Oliver, Rüdiger Stefan G, Petersilka Gregor, Battino Maurizio, Brett Peter, Hattab Faiez, Al-Hamed Mohamed, Sloan Philip, Toomes Carmel, Dixon Mike, James Jacqueline, Read Andrew P, Thakker Nalin

Abstract excerpt

We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others have also reported CTSC mutations in patients with...

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Source

Identifiers

PMID: 14974080
DOI: 10.1002/humu.10314

Genes

CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14974080-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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