Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

doi:10.1093/brain/awac164

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Article

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Brain : a journal of neurology - 14 Sept 2022

Di Donato Nataliya, Guerrini Renzo, Billington Charles J, Barkovich A James, Dinkel Philine, Freri Elena, Heide Michael, Gershon Elliot S, Gertler Tracy S, Hopkin Robert J, Jacob Suma, Keedy Sarah K, Kooshavar Daniz, Lockhart Paul J, Lohmann Dietmar R, Mahmoud Iman G, Parrini Elena, Schrock Evelin, Severi Giulia, Timms Andrew E, Webster Richard I, Willis Mary J H, Zaki Maha S, Gleeson Joseph G, Leventer Richard J, Dobyns William B

Abstract excerpt

Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene disrupted in the reeler mouse, a classic neurological mutant exhibiting ataxia, tremors and a 'reeling' gait. In humans, biallelic variants in RELN have been associated with a recessive lissencephaly variant with cerebellar hypoplasia, which matches well with...

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PMID: 35769015
DOI: 10.1093/brain/awac164
PMCID: PMC9989350

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