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Article

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

European journal of human genetics : EJHG - 1 Oct 2018

Huynh Minh-Tuan, Boudry-Labis Elise, Massard Alfred, Thuillier Caroline, Delobel Bruno, Duban-Bedu Bénédicte, Vincent-Delorme Catherine

Abstract excerpt

Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability, autistic traits, facial dysmorphism, hyperlaxity, mood...

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Source

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Identifiers

PMID: 29899371
DOI: 10.1038/s41431-018-0165-8
PMCID: PMC6138634

Genes

ADNP
DPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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