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Article

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

European journal of human genetics : EJHG - 1 Dec 2025

Harms Frederike L, Müller Christian, Kortüm Fanny, Hempel Maja, Alawi Malik, Zaki Maha S, Elhossini Rasha M, Abdel-Hamid Mohamed S, AlAbdi Lama, Alkuraya Fowzan S, Kurdi Wesam, Celse Tristan, Spodenkiewicz Marta, Laurens Tiphany, Dieterich Klaus, Jagadeesh Sujatha, Salvankar Sandesh, Girisha Katta M, Kutsche Kerstin

Abstract excerpt

Biallelic variants in COL25A1 have been associated with isolated congenital cranial dysinnervation disorders (CCDDs) and arthrogryposis multiplex congenital (AMC) with or without CCDD. COL25A1 encodes collagen XXV that belongs to the subfamily of membrane-associated collagens with interrupted triple helices. COL25A1 contains four non-collagenous and three collagenous domains. Three alternatively spliced COL25A1...

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Identifiers

PMID: 40158061
DOI: 10.1038/s41431-025-01839-4
PMCID: PMC12669723

Genes

COL25A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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