De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

doi:10.1172/JCI153097

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Article

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

The Journal of clinical investigation - 9 Jul 2024

Riva Martina, Ferreira Sofia, Hayashi Kotaro, Saillour Yoann, Medvedeva Vera P, Honda Takao, Hayashi Kanehiro, Altersitz Claire, Albadri Shahad, Rosello Marion, Dang Julie, Serafini Malo, Causeret Frédéric, Henry Olivia J, Roux Charles-Joris, Bellesme Céline, Freri Elena, Josifova Dragana, Parrini Elena, Guerrini Renzo, Del Bene Filippo, Nakajima Kazunori, Bahi-Buisson Nadia, Pierani Alessandra

Abstract excerpt

Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of RELN variants remain unknown. We identified inherited and de novo RELN missense variants in heterozygous patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38980724
DOI: 10.1172/JCI153097
PMCID: PMC11324310

Genes

RELN

Provenance

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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