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

Dafne Dain Gandelman Horovitz; Maria Angelica de Faria Domingues de Lima; Lais de Carvalho Pires; Abelardo de Queiroz Campos Araujo; Fernando Regla Vargas

doi:10.1177/11795735231181467

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

J Cent Nerv Syst Dis. 2023 Jun 13:15:11795735231181467. doi: 10.1177/11795735231181467. eCollection 2023.

Authors

Dafne Dain Gandelman Horovitz¹, Maria Angelica de Faria Domingues de Lima², Lais de Carvalho Pires³, Abelardo de Queiroz Campos Araujo^{4

5}, Fernando Regla Vargas^{2

6

7

8}

Affiliations

¹ Medical Genetics Department, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.
² Medical Genetics, Gaffrée and Guinle University Hospital, Rio de Janeiro, Brazil.
³ Pediatric Neurology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
⁴ Associated Professor Neurology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
⁵ Researcher, Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
⁶ Genetics and Molecular Biology Department, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
⁷ Epidemiology of congenital malformations laboratory, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
⁸ Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, 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.