eISSN: 2299-0046
ISSN: 1642-395X
Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
Current issue Archive Manuscripts accepted About the journal Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors
SCImago Journal & Country Rank
3/2022
vol. 39
 
Share:
Share:
more
 
 
abstract:
Letter to the Editor

A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa

Ping Cheng
1
,
Yingda Wu
1
,
Wanlu Zhang
2
,
Yuanyuan Zhang
1
,
Weixue Jia
1
,
Chengrang Li
1

1.
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China
2.
Department of Dermatology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China
Adv Dermatol Allergol 2022; XXXIX (3): 623-626
Online publish date: 2022/07/14
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
Dystrophic epidermolysis bullosa (DEB) is a genetic mechanobullous skin disorder that manifests at birth or in early infancy. The hallmarks of DEB are blister formation, skin fragility, and nail dystrophy following minor trauma. The disorder results from mutations in the type VII collagen gene (COL7A1) encoding the type VII collagen protein (C7). C7 is a major component of anchoring fibrils (AFs) [1], which is critical for attachment of the epidermis to the dermis. Dysfunction or loss-of-function of C7 leads to DEB. For instance, the complete loss of C7 causes the Hallopeau-Siemens type of DEB – the most severe phenotype. The inheritance pattern of mutated COL7A1 is either autosomal dominant (DDEB, OMIM 131750) or autosomal recessive (RDEB, OMIM 226600). However, de novo spontaneous mutations of COL7A1 are rarely reported in the population. Herein, we describe a DEB patient with a mild phenotype caused by a de novo missense mutation in the amino-terminal non-collagenous (NC)1 domain of C7.
Quick links
© 2022 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.