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 the homozygous mouse mutant that has abnormal cortical structure, small hippocampi and severe cerebellar hypoplasia

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders / Nataliya Di Donato , Renzo Guerrini , Charles J Billington , A James Barkovich , Philine Dinkel , Elena Freri , Michael Heide , Elliot S Gershon , Tracy S Gertler , Robert J Hopkin , Suma Jacob , Sarah K Keedy , Daniz Kooshavar , Paul J Lockhart , Dietmar R Lohmann , Iman G Mahmoud , Elena Parrini , Evelin Schrock , Giulia Severi , Andrew E Timms , Richard I Webster , Mary J H Willis , Maha S Zaki , Joseph G Gleeson , Richard J Leventer , William B Dobyns. - In: BRAIN. - ISSN 0006-8950. - ELETTRONICO. - (2022), pp. 0-0. [10.1093/brain/awac164]

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

Renzo Guerrini;Elena Parrini;
2022

Abstract

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 the homozygous mouse mutant that has abnormal cortical structure, small hippocampi and severe cerebellar hypoplasia
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Nataliya Di Donato , Renzo Guerrini , Charles J Billington , A James Barkovich , Philine Dinkel , Elena Freri , Michael Heide , Elliot S Gershon , Tracy S Gertler , Robert J Hopkin , Suma Jacob , Sarah K Keedy , Daniz Kooshavar , Paul J Lockhart , Dietmar R Lohmann , Iman G Mahmoud , Elena Parrini , Evelin Schrock , Giulia Severi , Andrew E Timms , Richard I Webster , Mary J H Willis , Maha S Zaki , Joseph G Gleeson , Richard J Leventer , William B Dobyns
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1280483
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