P700: A novel LAMA3 splice-site variant in junctional epidermolysis bullosa: Investigating splicing consequences and diagnostic challenges

Genetics in Medicine Open 2026 Open access

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Authors: Deepak Panwar, Maria O'Connell, Arash Salmaninejad, Marta Figueiral, Johannes Verheijen, Nila Khan, Filippo Pinto e Vairo, Nessa Aghazadeh, Laura Lambert, E. B. Klee
DOI: 10.1016/j.gimo.2026.104190
Cited by: 0

Abstract

LAMA3 encodes the α3 chain of laminin-332, a key structural component of the epidermal basement membrane zone that anchors keratinocytes to the dermis. Bi-allelic deleterious variants in LAMA3 disrupt dermal–epidermal adhesion, leading to autosomal recessive epidermolysis bullosa (EB), a group of mechanobullous disorders characterized by skin fragility and mucosal blistering. Several splice-altering variants in LAMA3 have been reported. However, interpretation of non-canonical splice-site variants remains challenging without experimental confirmation of their splicing impact.

Fields of Study & Subjects

Skin and Cellular Biology Research Genomics and Rare Diseases Genetic and rare skin diseases.

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104190–104190
Publication date
1 January 2026
Language
EN