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Article

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Translational psychiatry - 6 Jun 2022

Teles E Silva André Luíz, Glaser Talita, Griesi-Oliveira Karina, Corrêa-Velloso Juliana, Wang Jaqueline Yu Ting, da Silva Campos Gabriele, Ulrich Henning, Balan Andrea, Zarrei Mehdi, Higginbotham Edward J, Scherer Stephen W, Passos-Bueno Maria Rita, Sertié Andrea Laurato

Abstract excerpt

Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants interact and converge on causative neurobiological pathways. We identified in an ASD proband deleterious compound heterozygous missense variants in the Reelin (RELN) gene, and a de novo splicing variant in the Cav3.2 calcium channel (CACNA1H) gene. Here, by using...

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Identifiers

PMID: 35668055
DOI: 10.1038/s41398-022-01997-9
PMCID: PMC9170683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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