Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

ABSTRACT: Adams-Oliver syndrome (AOS) is a rare disease classically described with scalp vertex aplasia cutis and terminal transverse limb defects. This syndrome is frequently misdiagnosed by taking each feature of the disease separately. A novel de novo missense variant in DLL4 (c.998G>A, p.Cys333Tyr) was identified by Whole Exome Sequencing (WES), and structural analysis using AlphaFold and PremPS confirmed its pathogenicity by disrupting the NOTCH1 signaling pathway, highlighting the power of AI-driven tools in variant interpretation.

SUBMITTER: Cabrera R 

PROVIDER: S-EPMC12485272 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature