Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefèvre syndrome

Hart, Patricia; Pallos, Débora; Zhang, Y; Sánchez, José Luis González Montes; Kavamura, Ines; Brunoni, Décio; Hart, Thomas C.

doi:10.1016/s1096-7192(02)00031-8

Cited by 10 publications

(4 citation statements)

References 9 publications

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“…2002; [16] Nakano et al 2001; [15] Hart et al 2000c; [17] Zhang et al 2001; [18] Allende et al 2001; [19] Lefevre et al 2001; [7]Toomes et al 1999; [3] Cury et al 2002; [21] Hart et al 2002; [10] Hart et al 2000b; [14] Hart et al 1999; [22] Nusier et al 2002; [9] Hart et al 2000a. * Proband was a compound heterozygote for the 199–222 del and 458C>T mutations ** Alteration of highly conserved residue.…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

et al. 2003

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Background: PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the aminoterminus of protein substrates and mainly plays an immune and inflammatory role. Several mutations have been reported in this gene in patients from several ethnic groups. We report here mutation analysis of the CTSC gene in three Indian families with PLS.

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Section: Discussionmentioning

confidence: 99%

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

et al. 2003

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“…A founder effect has been described , illustrated by the mutation c.815G>C (p.Arg272Pro), the most commonly reported mutation, detected in families from geographically distinct areas . Mutations in the CTSC gene leading to disease result in a lack of CTSC activity in affected patients and reduced enzyme activity in heterozygous parents/siblings which remain largely unaffected . Papillon–Lefèvre syndrome disease‐causing CTSC mutations are accompanied by no activity of elastase, cathepsin G, and proteinase 3, due to the lack of or reduced proteolytic activation of these serine proteases .…”

Section: Cathepsin C Mutations Cause Papillon–lefèvre Syndromementioning

confidence: 99%

Inherited diseases caused by mutations in cathepsin protease genes

et al. 2017

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Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions, the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays 6 of the 15 human proteases called ‘cathepsins’ have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates. Here, we will provide an introduction on lysosomal cathepsins, followed by a brief description of the clinical symptoms of the various genetic diseases. For each disease, we focus on the known mutations of which many have been only recently identified by modern genome sequencing approaches. We further discuss the effect of the respective mutation on protease structure and activity, the resulting pathogenesis, and possible therapeutic strategies.

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“…Papillon – Lefèvre syndrome is caused by mutations of CTSC that result in a loss of function of cathepsin C (50, 116). Since the initial reports of CTSC mutations, more than 50 different mutations have been identified in the cathepsin C gene that are etiologic for Papillon – Lefèvre syndrome, the allelic condition Haim – Munk syndrome, as well as some cases of prepubertal aggressive periodontitis (1, 2, 17, 25, 51, 52, 55, 70, 86–88, 109, 121, 129).…”

Section: Periodontitis Associated With Metabolic Structural or Immunmentioning

confidence: 99%

Mendelian forms of periodontitis

Hart

Atkinson²

2007

Periodontology 2000

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Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefèvre syndrome

Cited by 10 publications

References 9 publications

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

Inherited diseases caused by mutations in cathepsin protease genes

Mendelian forms of periodontitis

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