Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.
COL7A1
base mutation
dystrophic epidermolysis bullosa
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
04
05
2020
revised:
10
07
2020
accepted:
01
08
2020
pubmed:
26
8
2020
medline:
15
5
2021
entrez:
26
8
2020
Statut:
ppublish
Résumé
We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement.
Substances chimiques
COL7A1 protein, human
0
Collagen Type VII
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1207-1209Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Richey P, Holt M, Crotts S, Jabbari A. Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen. JAAD Case Rep. 2019;5:779-781.
Jin L, Li Z, Xin C, et al. A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature. J Cosmet Dermatol. 2020;19:1508-1512.
Posteraro P, Pascucci M, Colombi M, et al. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun. 2005;338:1391-1401.
Wally V, Klausegger A, Koller U, et al. 5’ trans-splicing repair of the PLEC1 gene. J Invest Dermatol. 2008;128:568-574.
Sakuntabhai A, Hammami-Hauasli N, Bodemer C, et al. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Am J Hum Genet. 1998;63:737-748.