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Article

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

BMC medical genomics - 6 Jun 2025

Zhong Xue, Zheng Xuan, Xv Yinglei, Cai Kangxi, Wang Qianqian, Liu Shiguo

Abstract excerpt

BACKGROUND: Adams-Oliver syndrome (AOS) is a rare developmental disorder, and the DOCK6 gene is an identified AOS gene. This report highlights the prenatal diagnosis of AOS-2 by ultrasonography and genetic testing. METHODS: A growth-restricted fetus with bilateral ventriculomegaly, paraventricular calcifications, and ventricular septal defect underwent trio-whole-exome sequencing (trio-WES). Functional validation...

Read the complete abstract on PubMed

Topics

Adult
Female
Humans
Pregnancy
Ectodermal Dysplasia
Exome Sequencing
GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Guanine Nucleotide Exchange Factors

Heterozygote

Limb Deformities, Congenital

Mutation

Prenatal Diagnosis

Scalp Dermatoses

Source

Open in PubMed Open full text

Identifiers

PMID: 40481473
DOI: 10.1186/s12920-025-02157-w
PMCID: PMC12144770

Genes

DOCK6

Variants

Provenance

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