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Article

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Journal of medical genetics - 21 Mar 2024

Hany Ummey, Watson Christopher M, Liu Lu, Smith Claire E L, Harfoush Asmaa, Poulter James A, Nikolopoulos Georgios, Balmer Richard, Brown Catriona J, Patel Anesha, Simmonds Jenny, Charlton Ruth, Acosta de Camargo María Gabriela, Rodd Helen D, Jafri Hussain, Antanaviciute Agne, Moffat Michelle, Al-Jawad Maisoon, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

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...

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Identifiers

PMID: 37979963
DOI: 10.1136/jmg-2023-109510
PMCID: PMC10982616

Genes

COL17A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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