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Article

SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.

Development (Cambridge, England) - 1 Jul 2026

Coppenrath Kelsey, Shaidani Nikko-Ideen, Naert Thomas, Majumdar Himani D, Horb Marko, Lienkamp Soeren S, Klein Steven L, Moody Sally A

Abstract excerpt

SIX1 variants underlying branchio-oto-renal syndrome occur in the SIX domain (SD) or homeodomain (HD). We tested whether different variants - V17E (SD), Y129C (HD) - cause distinct developmental phenotypes in Xenopus embryos with reduced Six1 in comparison to wild-type Six1 (Six1WT). In Six1 morphants, Six1WT restored neural crest and preplacodal gene expression; V17E restored foxd3 and irx1 better than Y129C,...

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Identifiers

PMID: 42290293
DOI: 10.1242/dev.205428
PMCID: PMC13347299

Genes

SIX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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