A Novel Mutation of the Cathepsin C Gene in Papillon‐Lefévre Syndrome

Cury, Vanessa F.; Costa, José Eustáquio da; Gomez, Ricardo Santiago; Boson, Wolfanga L.; Loures, Cyro G.; Marco, Luiz

doi:10.1902/jop.2002.73.3.307

Cited by 46 publications

(46 citation statements)

References 24 publications

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“…Mutation in this enzyme lead to altered host response to pathogenic microorganisms in dental plaque. It is documented in literature that alterations in cathepsin C gene lead to pre pubertal periodontitis in PLS patients [6,21,22].…”

Section: Discussionmentioning

confidence: 99%

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Papillon Lefevre Syndrome: a case report with review

Kaur¹

2013

Dentistry

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Section: Discussionmentioning

confidence: 99%

“…Gorlin et al in 1964 [2] have added the third component of dural calcification for making diagnosis of this syndrome. It has a prevalence of 1-4 cases per million in general population and the carrier frequency appears to be 2-4 per thousand population with no sexual predominance [3][4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Papillon Lefevre Syndrome: a case report with review

Kaur¹

2013

Dentistry

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“…We have previously elucidated the genetic organization of the gene encoding cathepsin C (CTSC, MIM# 602365) and have demonstrated mutations of this gene that result in a complete loss of CTSC activity in individuals affected with PLS [Toomes et al, 1999]. Further mutations of CTSC in PLS have been reported by others [Hart et al, 1999[Hart et al, , 2000aAllende et al, 2001;Lefèvre et al, 2001;Nakano et al, 2001;Zhang et al, 2001Zhang et al, , 2002Cury et al, 2002;Nusier et al, 2002]. Mutations of CTSC have also been reported in families with prepubertal periodontitis (PPP), which is characterized by periodontitis similar to that observed in PLS, but without the palmoplantar keratosis seen in PLS [Hart et al, 2000b].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2004

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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 severe prepubertal periodontitis, but without any skin manifestations. The possible role of CTSC variants in more common types of non-mendelian, early-onset, severe periodontitis ("aggressive periodontitis") has not been investigated. In this study, we have investigated the role of CTSC in all three conditions. We demonstrate that PLS is genetically homogeneous and the mutation spectrum that includes three novel mutations (c.386T>A/p.V129E, c.935A>G/p.Q312R, and c.1235A>G/p.Y412C) in 21 PLS families (including eight from our previous study) provides an insight into structure-function relationships of CTSC. Our data also suggest that a complete loss-of-function appears to be necessary for the manifestation of the phenotype, making it unlikely that weak CTSC mutations are a cause of aggressive periodontitis. This was confirmed by analyses of the CTSC activity in 30 subjects with aggressive periodontitis and age-sex matched controls, which demonstrated that there was no significant difference between these two groups (1,728.7 +/- SD 576.8 micro moles/mg/min vs. 1,678.7 +/- SD 527.2 micro moles/mg/min, respectively, p = 0.73). CTSC mutations were detected in only one of two families with prepubertal periodontitis; these did not form a separate functional class with respect to those observed in classical PLS. The affected individuals in the other prepubertal periodontitis family not only lacked CTSC mutations, but in addition did not share the haplotypes at the CTSC locus. These data suggest that prepubertal periodontitis is a genetically heterogeneous disease that, in some families, just represents a partially penetrant PLS.

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“…In addit ion to defects in epitheliu m format ion, reduced lymphocyte response in vitro and decreased chemotaxis and phagocytosis of neutrophils and monocytes have been reported in Papillon-Lefevre syndrome patients. Studies involving genome wide lin kage scans of consanguineous families mapped the Papillon-Lefevre syndrome locus to the long arm of chro mosome 11, with the gene encoding lysosomal protease cathepsin C [32]. This enzy me is expressed at high levels in many immune cells including poly morphonuclear leukocytes and macrophages and their precursors.…”

Section: Monogenic Syndromesmentioning

confidence: 99%

“…Three different loci have been associated with the isolated form o f HGF: t wo mapping to chromosome 2 (GINGF on 2p 21-22 and GINGF3 on 2p22.3-p23.3), which do not overlap, and one mappping to chromosome 5 (GINGF2 on 5q13-q22). Of these loci, only the SOS1 (son of sevenless one) gene underlying the GINGF locus has been identified [32]. The SOS1 mutation linked to HGF was observed in a large mult igenerational Brazilian family segregating HGF as a highly penetrant autosomal dominant gene.…”

Section: Gingi Val Enlargementmentioning

confidence: 99%

Association of Periodontal Diseases with Genetic Polymorphisms

Gandhi¹,

Kothiwale²

2012

IJGE

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Periodontal diseases are multifactorial in nature. While microbial and other environmental factors are believed to initiate and modulate periodontal disease progression, there now exist strong supporting data that genetic polymorphis ms play a role in the predisposition to and progression of periodontal diseases. Variat ions in any number or combination of genes that control the development of the periodontal tissues or the competency of the cellular and humoral immune systems could affect an individual's risk fo r d isease. A corollary of this realization is that if the genetic basis of periodontal disease susceptibility can be understood, such information may have diagnostic and therapeutic value. This review aims to update the clin ician about various genetic polymorphis ms associated with periodontal diseases to aid in a better approach to the condition in the future.

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A Novel Mutation of the Cathepsin C Gene in Papillon‐Lefévre Syndrome

Abstract: This study describes a novel mutation of the cathepsin C gene in a Brazilian kindred with Papillon-Lefèvre syndrome.

Cited by 46 publications

References 24 publications

Papillon Lefevre Syndrome: a case report with review

Papillon Lefevre Syndrome: a case report with review

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

Association of Periodontal Diseases with Genetic Polymorphisms

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