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Article

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

Molecular autism - 27 Feb 2025

Pantiru Andreea D, Van de Sompele Stijn, Ligneul Clemence, Chatelain Camille, Barrea Christophe, Lerch Jason P, Filippi Beatrice M, Alkan Serpil, De Baere Elfride, Johnston Jamie, Clapcote Steven J

Abstract excerpt

BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine...

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Identifiers

PMID: 40016860
DOI: 10.1186/s13229-025-00650-8
PMCID: PMC11866840

Genes

PDZD8

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

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