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Article

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.

BMC medical genomics - 9 May 2026

Tan Xuemei, Huang Yuanyuan, Wei Xiaobao, Lai Qiurong, Pang Lang, Lan Jiquan, Liu Qingnan, Qin Jiangfeng, Zeng Fangfang, Chen Lizhu, Yuan Dejian

Abstract excerpt

BACKGROUND: Mutations in RAB3GAP2 are associated with Martsolf syndrome 1, characterized by postnatal microcephaly, congenital cataracts, and developmental delay. Two compound heterozygous variants of RAB3GAP2 were identified in a fetus with congenital cataract. This study aimed to assess the pathogenicity of the RAB3GAP2 variant c.304 + 5G > T. METHODS: Fetal lenses were evaluated using ultrasound. Whole exome...

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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: 42106822
DOI: 10.1186/s12920-026-02385-8
PMCID: PMC13330085

Genes

RAB3GAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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