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Article

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

American journal of medical genetics. Part A - 1 Aug 2025

Douiev Liza, Alvarez Paula Fernandez, Frank Marika, Hanington Lucy, Hoffman Trevor L, Irons Mira B, Kim Jenny, Kumar Akash, Lasa-Aranzasti Amaia, Le Duc Diana, Livesey Helen, Murch Oliver, Shears Deborah, Walther Brandon K, Harel Tamar

Abstract excerpt

SIAH1 encodes for a RING-type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β-catenin and mediates ubiquitination and degradation of Akt3 in neural development. Heterozygous de novo missense pathogenic variants in SIAH1 have been described in five unrelated individuals and are associated with developmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40156476
DOI: 10.1002/ajmg.a.64048

Genes

SIAH1

Provenance

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