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- Title
Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy.
- Authors
Malovitski, Kiril; Meijers, Odile; Cohen‐Barak, Eran; Bergman, James; Adir, Noam; Giladi, Moshe; Shalev, Stavit; Sarig, Ofer; Schwartz, Janice; Evans, Holly; Sprecher, Eli; Samuelov, Liat
- Abstract
GLO:F03/01nov22:bjd21774-toc-0001.jpg PHOTO (COLOR): . gl Dear Editor, Epidermolysis bullosa (EB) refers to a heterogeneous group of rare inherited disorders characterized by skin and mucosal fragility.1 Junctional EB (JEB) is an autosomal recessive (AR) subtype of EB manifesting with widespread skin blistering, mucosal sloughing and, in some cases, nail dystrophy, alopecia and visceral involvement. (f) Direct DNA sequencing revealed a heterozygous missense mutation in the ITGB4 gene at position 512 (c.512T>A) in individual III-1, family A (left upper panel) and a heterozygous missense mutation in the ITGB4 gene at position 433 (c.433G>C) in individual II-1 family B (right upper panel).
- Subjects
EPIDERMOLYSIS bullosa; GENETIC variation; INTEGRINS; DYSTROPHY; CELLULAR signal transduction; NAILS (Anatomy)
- Publication
British Journal of Dermatology, 2022, Vol 187, Issue 5, p826
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.21774