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Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Genes - 24 Apr 2024

Santaniello Carlo, Faversani Alice, Corsaro Luigi, Melloni Giulia, Motta Silvia, Mandorino Elena, Sacco Davide, Stioui Sabine, Ferrara Fulvio, Barteselli Davide, De Vita Dario, Manuelli Debora, Costantino Lucy

Abstract excerpt

Adams-Oliver syndrome is a rare inherited condition characterized by scalp defects and limb abnormalities. It is caused by variants in different genes such as ARHGAP31. Here, we used an interdisciplinary approach to study a family with lower limb anomalies. We identified a novel variant in the ARHGAP31 gene that is predicted to result in a truncated protein with a constitutively activated catalytic site due to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38790165
DOI: 10.3390/genes15050536
PMCID: PMC11120939

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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