Genetic and clinical analysis of a novel ACTL6B gene variation related developmental epileptic encephalopathy with cherry erythema in the fundus
10.3760/cma.j.cn113694-20230712-00455
- VernacularTitle:ACTL6B基因突变相关发育性癫痫性脑病伴眼底樱桃红斑儿童1例临床及遗传学分析
- Author:
Jiaying LIAO
1
;
Pingping ZHANG
;
Lina XIE
;
Qian CHEN
Author Information
1. 北京大学首都儿科研究所教学医院神经内科 首都儿科研究所附属儿童医院神经内科，北京100020
- Keywords:
Epilepsy;
Infant;
Mutation;
ACTL6B gene;
Developmental and epileptic encephalopathies
- From:
Chinese Journal of Neurology
2023;56(11):1230-1236
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic features of patients with ACTL6B gene variations, and to report novel pathogenic variations of the ACTL6B gene, summarize the clinical phenotypes and genotypes of the gene. Methods:The clinical phenotypes and genotypes of a infant with developmental epileptic encephalopathy carrying the ACTL6B gene variations, who visited the Department of Neurology, Capital Institute of Pediatrics-Peking University Teaching Hospital on March 12, 2021 were analyzed. The phenotypes and genotypes of patients carrying the ACTL6B gene variations reported in the literature were also summarized and analyzed. Results:The proband was a 2-month-old male presented with convulsive seizures, development delay, dystonia, and cherry erythema in the fundus. The whole exome sequencing of his family showed that he carried compound heterozygous variation c.937-2A>G(p.?), c.11delG(p.G4Afs *86) which derived from his parents respectively. These 2 genotypes had not been reported. A total of 42 cases with ACTL6B gene variation were reported in the literature and in this study. There were 11 de novo heterozygous variations and 31 bi-allelic variations inherited from the parents (24 homozygous and 7 compound heterozygous). Individuals with variations tended to have epilepsy, development delay, ambulation disability, speech disability and dystonia. Minor facial dysmorphisms and autism spectrum disorder also can be seen. Conclusion:This paper summarizes the clinical and genetic features of patients with ACTL6B gene variations, reports 2 novel variations and a novel combination of this gene with cherry erythema in the fundus.
