Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.

Tytuł:: Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
Autorzy:: Pap ÉM; Department of Obstetrics and Gynecology Szeged, University of Szeged, Szeged, Hungary.
Farkas K; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Tóth L; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Fábos B; Mór Kaposi Teaching Hospital, Kaposvár, Hungary.
Széll M; Department of Medical Genetics, University of Szeged, Szeged, Hungary.; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Németh G; Department of Obstetrics and Gynecology Szeged, University of Szeged, Szeged, Hungary.
Nagy N; Department of Medical Genetics, University of Szeged, Szeged, Hungary.; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Źródło:: Clinical and experimental dermatology [Clin Exp Dermatol] 2020 Jul; Vol. 45 (5), pp. 555-559. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: 2023- : Oxford : Oxford University Press
Original Publication: Oxford : Blackwell Scientific Publications.
MeSH Terms:: Mutation, Missense*
Phenotype*
Acro-Osteolysis/*genetics
Cathepsin C/*genetics
Papillon-Lefevre Disease/*genetics
DNA Mutational Analysis ; Female ; Humans ; Male ; Polymorphism, Single Nucleotide ; Signal Transduction
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Sulák A, Tóth L, Farkas K et al. One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes. Clin Exp Dermatol 2016; 41: 190-5.
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Grant Information:: EFOP-3.6.1-16-2016-00008 Emberi Erőforrás Fejlesztési Operatív Program; GINOP-2.3.2-15-2016-00039 Gazdaságfejlesztési ls Innovációs Operatív Program
Substance Nomenclature:: EC 3.4.14.1 (CTSC protein, human)
EC 3.4.14.1 (Cathepsin C)
SCR Disease Name:: Keratosis palmoplantaris with periodontopathia and onychogryposis
Entry Date(s):: Date Created: 20200112 Date Completed: 20200706 Latest Revision: 20200706
Update Code:: 20240105
DOI:: 10.1111/ced.14171
PMID:: 31925812
: Czasopismo naukowe

Pełny tekst

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: WES revealed two putative phenotype-modifying variants: (i) a missense mutation (rs34608771) of the SH2 domain containing 4A (SH2D4A) gene encoding an adaptor protein involved in intracellular signalling of cystatin F, a known inhibitor of the cathepsin protein, and (ii) a missense variant (rs55695858) of the odorant binding protein 2A (OBP2A) gene, influencing the function of the cathepsin protein through the glycosyltransferase 6 domain containing 1 (GLT6D1) protein.
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.
(© 2020 The Authors. Clinical and Experimental Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)

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