Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

ABSTRACT:

Background

Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised.

Methods

Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequenci

SUBMITTER: Hany U 

PROVIDER: S-EPMC10982616 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature