Papillon–Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene

Papillon-Lefèvre syndrome (PLS) is a rare disorder characterized by palmar plantar hyperkeratosis and rapidly progressive periodontitis with loss of deciduous and permanent dentition at an early age. It is reported to occur in 1 to 4 individuals per million people. This case report presents highlighting features of the rare PLS in a 17-year old male who complained of discomfort while mastication and it was accompanied with symmetrical, sharply demarcated erythematous plaques involving the skin of the palms and soles, which extended to the finger joints, elbows, and knees. Along with the rough and dry skin, hyperhidrosis of lesion with a foul odor and transverse grooving of nails were noted. The past dental history revealed normal eruption of deciduous teeth followed by pre-mature mobility and shedding in 4-6 months. Permanent teeth also showed normal eruption and early shedding in the next 4-5 years. Complete edentulous maxillary and mandibular arches led to a decrease in alveolar bone and facial heights. There was no similar disorder in the patient’s family but family history revealed the consanguineous marriage of the patient’s parents.

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“… 8 A missense type of mutation of the cathepsin-C gene has also been reported quite recently, which has proven to be lethal. 12 …”

Section: Discussionmentioning

confidence: 99%

Dental Prosthetic Rehabilitation of Papillon-Lefèvre Syndrome: A Case Report

Patil

Metkari

Shetty

et al. 2020

Clinics and Practice

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“…Existing evidence shows the etiology and pathogenic mechanisms underlying PLS are very complex, and the loss‐of‐function mutations of cathepsin C gene ( CTSC ; OMIM 602365) are the main genetic contributor to PLS. CTSC belongs to the member of lysosomal cysteine protease of the papain superfamily of cysteine proteases and has a great impact on mediating cytotoxicity, destructing bacteria, and regulating the activation of a serine protease (Meenu et al, 2020 ). To date, 113 CTSC variants have been reported in ethnically various populations.…”

Section: Introductionmentioning

confidence: 99%

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

Liu

et al. 2021

Molec Gen & Gen Med

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Background Papilon‐Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disease characterized by aggressive periodontitis and palmoplantar keratoderma. The prevalence of PLS in the general population is one to four cases per million. Although the etiology and pathogenic mechanisms underlying PLS remain largely unclear, existing evidence shows loss‐of‐function mutations of the cathepsin C gene (CTSC; OMIM 602365) could cause PLS. Here we found a novel variant of the CTSC gene in a Chinese PLS family and predicted the effect of the variant on the physic–chemical characters and tertiary structure of the protein. Methods The 1–7 coding exons and exon–intron boundaries of CTSC gene of the proband and her family were amplified and sequenced directly, and Chromas was used to read sequencing files. Furthermore, the PolyPhen‐2, PROVEAN, and Mutation Taster were utilized to predict the pathogenicity of the variant. Besides, the physic–chemical and structural characters of the protein were analyzed by ProtParam, ProtScale, and SWISS‐MODEL. Results Our study identified a novel homozygous variant c.763T>C (p.Cys255Arg) in exon 6 of the CTSC gene, and it was a likely pathogenic variant as predicted by PolyPhen‐2, PROVEAN, and Mutation Taster. Moreover, ProtParam and Protscale revealed the variant increased the isoelectric point and hydrophilicity of the protein, and the SWISS‐MODEL analysis suggested the variant was located in a critical domain for protein activity. Conclusion Our study analyzed a Chinese family with PLS and identified a novel missense variant in the CTSC gene. Besides, this study retrospectively summarized 113 variants of CTSC in the world and highlighted the features of 27 CTSC variants in Chinese PLS patients. In addition, this study paid much particular attention to the relationship between CTSC variants and different phenotypes.

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Papillon–Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene

Cited by 2 publications

References 21 publications

Dental Prosthetic Rehabilitation of Papillon-Lefèvre Syndrome: A Case Report

Dental Prosthetic Rehabilitation of Papillon-Lefèvre Syndrome: A Case Report

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

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