Neurological Phenotypes of <i>IRF2BPL</i> Gene Variants: A Report of Four Novel Variants-Reference-Cited by-同舟云学术

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

Published:2023-06-13 Issue: Volume:15 Page:
ISSN:1179-5735
Container-title:Journal of Central Nervous System Disease
language:en
Short-container-title:J Cent Nerv Syst Dis

Author:

Horovitz Dafne Dain Gandelman¹,de Faria Domingues de Lima Maria Angelica²^ORCID,Pires Lais de Carvalho³,Campos Araujo Abelardo de Queiroz⁴⁵,Vargas Fernando Regla²⁶⁷⁸

Affiliation:

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.

Publisher

SAGE Publications

Subject

Management Science and Operations Research,Mechanical Engineering,Energy Engineering and Power Technology

Link

http://journals.sagepub.com/doi/pdf/10.1177/11795735231181467

Reference30 articles.

1. IRF2BPL Is Associated with Neurological Phenotypes

2. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

3. Characterization of C14orf4, a Novel Intronless Human Gene Containing a Polyglutamine Repeat, Mapped to the ARVD1 Critical Region

4. Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis

5. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling