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Article

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

JCI insight - 22 May 2023

Lin Isabella, Wei Angela, Awamleh Zain, Singh Meghna, Ning Aileen, Herrera Analeyla, Russell Bianca E, Weksberg Rosanna, Arboleda Valerie A

Abstract excerpt

ASXL1 (additional sex combs-like 1) plays key roles in epigenetic regulation of early developmental gene expression. De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities, distinctive facial features, hypertrichosis, increased risk of Wilms tumor, and variable congenital anomalies,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37053013
DOI: 10.1172/jci.insight.167744
PMCID: PMC10322691

Genes

ASXL1
VANGL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.PMID 37053013Read ↗

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