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Article

DIAPH1 regulates the Wnt/β-catenin pathway resulting in microcephaly and visual impairment.

BMC medical genomics - 10 Apr 2026

Wang Dayan, Lai Panjian, Wang Kan, Wu Zhuanbin, Li Xiaobing

Abstract excerpt

BACKGROUND: Biallelic DIAPH1 mutations are linked to hereditary microcephaly syndrome, yet the underlying pathogenic mechanism remains unelucidated. This study aimed to clarify how DIAPH1 biallelic mutations cause microcephaly and visual impairment, focusing on the gene’s regulatory role in the Wnt/β-catenin signaling pathway. METHODS: Whole exome sequencing was performed on a patient’s peripheral blood to...

Topics

Animals
Microcephaly
Zebrafish
Humans
Wnt Signaling Pathway
Mutation
Vision Disorders
Formins
beta Catenin
Zebrafish Proteins
Female
Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Disease Models, Animal

Source

Open in PubMed Open full text

Identifiers

PMID: 41963888
DOI: 10.1186/s12920-026-02364-z
PMCID: PMC13227654

Genes

DIAPH1
AXIN1
AXIN2
LRP5
LRP6
WNT8A
WNT9A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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