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Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Neurogenetics - 1 Oct 2024

Agha Gholizadeh Mehdi, Behjati Farkhondeh, Ghasemi Firouzabadi Saghar, Heidari Erfan, Razmara Ehsan, Almadani Navid, Sharifi Zarchi Ali, Garshasbi Masoud

Abstract excerpt

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The disorder is clinically diagnosed based on DSM-5 criteria, featuring deficits in social communication and interaction, along with restricted and repetitive behaviours. Here, we performed whole-genome sequencing (WGS) on four individuals with ASD from two multiplex families (MPX), where more than...

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PMID: 38976082
DOI: 10.1007/s10048-024-00768-6

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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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