A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
DSP
Palmoplantar keratosis
reflectance confocal microscopy (RCM)
Journal
Journal of cosmetic dermatology
ISSN: 1473-2165
Titre abrégé: J Cosmet Dermatol
Pays: England
ID NLM: 101130964
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
accepted:
22
02
2018
pubmed:
3
4
2018
medline:
18
5
2019
entrez:
3
4
2018
Statut:
ppublish
Résumé
Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). To better understand the relationship between PPK and the gene mutations in DSP. A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls. DSP gene sequence analysis and Q-PCR analysis was performed for evaluating DSP gene mutation and expression. A novel heterozygous missense mutation c.3550 C>T in the coding region of the DSP gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. In the meanwhile, this mutation was not found in 100 healthy individuals. The novel missense mutation c.3550 C>T(p.Arg1184Trp) of DSP gene expanded the mutation spectrum in palmoplantar keratoderma.
Sections du résumé
BACKGROUND
BACKGROUND
Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK).
AIMS
OBJECTIVE
To better understand the relationship between PPK and the gene mutations in DSP.
METHODS
METHODS
A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls. DSP gene sequence analysis and Q-PCR analysis was performed for evaluating DSP gene mutation and expression.
RESULTS
RESULTS
A novel heterozygous missense mutation c.3550 C>T in the coding region of the DSP gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. In the meanwhile, this mutation was not found in 100 healthy individuals.
CONCLUSIONS
CONCLUSIONS
The novel missense mutation c.3550 C>T(p.Arg1184Trp) of DSP gene expanded the mutation spectrum in palmoplantar keratoderma.
Substances chimiques
DSP protein, human
0
Desmoplakins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
371-376Subventions
Organisme : National Key Basic Research Program of China
ID : 2014CB541901
Organisme : National Nature Science Foundation of China
ID : 30500440
Informations de copyright
© 2018 Wiley Periodicals, Inc.