Description of Two New Cathepsin C Gene Mutations in Patients With Papillon‐Lefèvre Syndrome

Wani, Aijaz A.; Devkar, Nihal; Patole, Milind S.; Shouche, Yogesh S.

doi:10.1902/jop.2006.050124

Cited by 25 publications

(17 citation statements)

References 15 publications

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“…Papillon-Lefevre syndrome/Dipeptidyl peptidase I deficiency (Cathepsin C mutation): (107, 111–113): aggressive periodontitis. Periodontal manifestations of Papillon-Lefevre syndrome in a single patient are shown in Figure 4.…”

Section: Neutrophil Defects and Polymorphisms Associated With Aggressmentioning

confidence: 99%

Neutrophils in Periodontal Inflammation

Scott

Krauss²

2011

Frontiers of Oral Biology

208

216

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Section: Neutrophil Defects and Polymorphisms Associated With Aggressmentioning

confidence: 99%

Neutrophils in Periodontal Inflammation

Scott

Krauss²

2011

Frontiers of Oral Biology

208

216

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“…[1] It is a rare heritable, autosomal recessive disorder[2] caused by the deficiency in cathepsin-C (CTSC),[34] characterized by hyperkeratosis of palms and soles and severe destructive periodontal disease affecting both the primary and permanent teeth. It has prevalence of 1-4 cases per million persons,[5] without sex and racial predominance.…”

Section: Introductionmentioning

confidence: 99%

Papillon-lefevre syndrome: Case series and review of literature

Bhavsar

Brahmbhatt

Sahayata

et al. 2013

J Indian Soc Periodontol

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Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.

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“…The c.1213delCAT p.His405del in‐frame deletion was reported in homozygous form in an Indian PLS patient (Wani et al. ). A large intragenic deletion of exons 3–7 was observed for another PLS patient in compound heterozygous form, in combination with another missense mutation, c.1156G>C p.Gly386Arg (Jouary et al.…”

Section: Other Deletionsmentioning

confidence: 99%

CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

Nagy

Vályi

Csoma

et al. 2014

Molec Gen & Gen Med

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Papillon–Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of recurrent mutations identified in Hungarian patients and a review of published mutations is presented in this update. Comparison of clinical features in affected families with the same mutation strongly confirm that identical mutations of the CTSC gene can give rise to multiple different phenotypes, making genotype–phenotype correlations difficult. Variable expression of the phenotype associated with the same CTSC mutation may reflect the influence of other genetic and/or environmental factors. Most mutations are missense (53%), nonsense (23%), or frameshift (17%); however, in-frame deletions, one splicing variant, and one 5′ untranslated region (UTR) mutation have also been reported. The majority of the mutations are located in exons 5–7, which encodes the heavy chain of the cathepsin C protein, suggesting that tetramerization is important for cathepsin C enzymatic activity. All the data reviewed here have been submitted to the CTSC base, a mutation registry for PLS at http://bioinf.uta.fi/CTSCbase/.

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Description of Two New Cathepsin C Gene Mutations in Patients With Papillon‐Lefèvre Syndrome

Cited by 25 publications

References 15 publications

Neutrophils in Periodontal Inflammation

Neutrophils in Periodontal Inflammation

Papillon-lefevre syndrome: Case series and review of literature

CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

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