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The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

American journal of medical genetics. Part A - 1 Feb 2026

Benvenuto Mario, Giacomo Marilena Carmela Di, Piepoli Ada, Carella Massimo, D'Addetta Paola, Palumbo Orazio, Castori Marco, Palumbo Pietro

Abstract excerpt

The ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is an autosomal dominant neurodevelopmental disorder caused by heterozygous truncating variants abolishing the homeobox and/or HP1 domains of ADNP. Rare missense changes in the ADNP gene are usually variants of uncertain significance or reclassified as (likely) benign because they are inherited from an unaffected parent, and a causative...

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Identifiers

PMID: 40977432
DOI: 10.1002/ajmg.a.64264

Genes

ADNP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.PMID 40977432Read ↗

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Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.Semantic proximity Read ↗

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.Semantic proximity Read ↗

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Semantic proximity Read ↗

Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDASSemantic proximity Read ↗

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.Semantic proximity Read ↗

DNA binding analysis of rare variants in homeodomains reveals novel homeodomain specificity-determining residuesSemantic proximity Read ↗

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.Semantic proximity Read ↗

A novel genomic mutation in ADNP leading to intellectual disability.Semantic proximity Read ↗

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.Semantic proximity Read ↗

Tracing the Invisible Mutant ADNP protein in Helsmoortel- Van der Aa Syndrome patientsSemantic proximity Read ↗

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