Abstract | BACKGROUND: Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndrome (HMS; OMIM 245010), which are both characterized by palmoplantar hyperkeratosis and periodontitis, are phenotypic variants of the same disease caused by mutations of the cathepsin C (CTSC) gene. AIM: To identify putative genetic modifying factors responsible for the differential development of the PLS or HMS phenotypes, we investigated two Hungarian patients with different phenotypic variants (PLS and HMS) but carrying the same homozygous nonsense CTSC mutation (c.748C/T; p.Arg250X). METHODS: To gain insights into phenotype-modifying associations, whole exome sequencing (WES) was performed for both patients, and the results were compared to identify potentially relevant genetic modifying factors. RESULTS: CONCLUSION: Our study contributes to the accumulating evidence supporting the clinical importance of phenotype-modifying genetic factors, which have high potential to aid the elucidation of genotype-phenotype correlations and disease prognosis.
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Authors | É M Pap, K Farkas, L Tóth, B Fábos, M Széll, G Németh, N Nagy |
Journal | Clinical and experimental dermatology
(Clin Exp Dermatol)
Vol. 45
Issue 5
Pg. 555-559
(Jul 2020)
ISSN: 1365-2230 [Electronic] England |
PMID | 31925812
(Publication Type: Journal Article)
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Copyright | © 2020 The Authors. Clinical and Experimental Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. |
Chemical References |
- CTSC protein, human
- Cathepsin C
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Topics |
- Acro-Osteolysis
(genetics)
- Cathepsin C
(genetics)
- DNA Mutational Analysis
- Female
- Humans
- Male
- Mutation, Missense
- Papillon-Lefevre Disease
(genetics)
- Phenotype
- Polymorphism, Single Nucleotide
- Signal Transduction
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