Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

doi:10.1038/s41419-024-06768-6

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Article

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Cell death & disease - 30 May 2024

Werren Elizabeth A, Peirent Emily R, Jantti Henna, Guxholli Alba, Srivastava Kinshuk Raj, Orenstein Naama, Narayanan Vinodh, Wiszniewski Wojciech, Dawidziuk Mateusz, Gawlinski Pawel, Umair Muhammad, Khan Amjad, Khan Shahid Niaz, Geneviève David, Lehalle Daphné, van Gassen K L I, Giltay Jacques C, Oegema Renske, van Jaarsveld Richard H, Rafiullah Rafiullah, Rappold Gudrun A, Rabin Rachel, Pappas John G, Wheeler Marsha M, Bamshad Michael J, Tsan Yao-Chang, Johnson Matthew B, Keegan Catherine E, Srivastava Anshika, Bielas Stephanie L

Abstract excerpt

CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental...

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PMID: 38816421
DOI: 10.1038/s41419-024-06768-6
PMCID: PMC11140003

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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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