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Article

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Ophthalmic genetics - 1 Jun 2025

Tawfik Caroline Atef, Essawi Mona Lotfi, Nowara Mohamed, Mohsen Reem, Elbagoury Nagham Maher

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is an auditory-pigmentary syndrome characterized by hair pigmentary abnormalities, pigmentary abnormalities of the iris, and congenital hearing loss. Type 1 associated with dystopia canthorum is caused by mutations in PAX3 gene which codes for DNA-binding transcription factor involved in neural crest border induction at the neural plate. METHODS: A 41-year-old male patient of...

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Source

Identifiers

PMID: 40044632
DOI: 10.1080/13816810.2025.2473972

Genes

CFAP410
PAX3
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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