Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.
Gaffrée and Guinle University Hospital. Medical Genetics, Rio de Janeiro, RJ, Brazil.
Universidade Federal do Rio de Janeiro. Pediatria Neurológica. Rio de Janeiro, RJ, Brazil.
Universidade Federal do Rio de Janeiro. Rio de Janeiro, RJ, Brazil / Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brazil.
Gaffrée and Guinle University Hospital. Medical Genetics, Rio de Janeiro, RJ, Brazil / Universidade Federal do Estado do Rio de Janeiro. Genetics and Molecular Biology Department. Rio de Janeiro, RJ, Brazil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Epidemiology of Congenital Malformations Laboratory. Rio de Janeiro, RJ, Brazil / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brazil.

Abstract

IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.

Keywords

HCN1 protein
IRF2BPL protein
Developmental disabilities
Epilepsy
Parkinsonian disorders
Rare diseases
Whole exome sequencing

Publisher

SAGE Publications

Citation

HOROVITZ, Dafne Dain Gandelman et al. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants. Journal of Central Nervous System Disease, v. 15, p. 1-5, Jun. 2023.

DOI

10.1177/11795735231181467

ISSN

1179-5735

Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/59860

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Open access

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