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COL7A1 – Dystrophic Epidermolysis Bullosa Nails Only

Dystrophic epidermolysis bullosa, nails only (DEB-na) is a rare autosomal dominant variant of DEB characterized by dystrophic changes restricted to the nails. In a study of two unrelated families, next-generation and Sanger sequencing identified novel heterozygous missense variants in COL7A1: c.6742G>A (p.Gly2248Arg) in patient 1 and c.7181C>G (p.Pro2394Arg) in patient 2. Both probands exhibited nail dystrophy with ultrastructural loss of anchoring fibrils on electron microscopy, confirming the functional impact of these variants on type VII collagen assembly and anchoring fibril formation (PMID:32396230). These data support a limited but compelling association of COL7A1 heterozygous variants with DEB-na and underscore the importance of targeted genetic testing in patients presenting with isolated nail dystrophy.

References

  • The Journal of dermatology • 2020 • What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause. PMID:32396230

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

2 probands with novel heterozygous missense variants in distinct families ([PMID:32396230]); AD inheritance; ultrastructural anchoring fibril loss

Genetic Evidence

Limited

2 unrelated probands with heterozygous COL7A1 variants and consistent clinical phenotype ([PMID:32396230])

Functional Evidence

Limited

Electron microscopy demonstrated loss of anchoring fibrils correlating with COL7A1 variants ([PMID:32396230])