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Article

A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.

Genes - 26 Jan 2026

Varney Scarlett, Vernau Karen, Brown Craig, Toedebusch Christine, Vo Julia, Bannasch Danika

Abstract excerpt

BACKGROUND/OBJECTIVES: Spondylocostal dysostosis (SCDO) is a rare disorder characterized by congenital malformations of the spine and ribs. SCDO affects 1 in 40,000 human births, with rare cases also reported in dogs. Mutations in DLL3, encoding a critical Notch signaling pathway ligand, account for a majority of human SCDO cases. The remaining cases have variants in HES7, LFNG, MESP2, RIPPLY2, TBX6, and DLL1,...

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Topics

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Share to Dog Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hernia, Diaphragmatic

Share to Intracellular Signaling Peptides and Proteins

Share to Receptors, Notch

Share to RNA Splice Sites

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Source

Open in PubMed Open full text

Identifiers

PMID: 41751515
DOI: 10.3390/genes17020131
PMCID: PMC12940947

Genes

DLL3
DLL1
EGF
HES7
LFNG
MESP2
RIPPLY2
TBX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.PMID 41751515Read ↗

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