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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Molecular autism - 30 Sept 2024

Shaw Nicole C, Chen Kevin, Farley Kathryn O, Hedges Mitchell, Forbes Catherine, Baynam Gareth, Lassmann Timo, Fear Vanessa S

Abstract excerpt

BACKGROUND: SETBP1 Haploinsufficiency Disorder (SETBP1-HD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive. We...

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PMID: 39350244
DOI: 10.1186/s13229-024-00625-1
PMCID: PMC11443744

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