De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype

Autor:	Yue Niu, Qiaoqiao Qian, Juan Li, Pan Gong, Xianru Jiao, Xiao Mao, Bo Xiao, Lili Long, Zhixian Yang
Rok vydání:	2022
Předmět:	Phenotype Autism Spectrum Disorder Neurodevelopmental Disorders Seizures Intellectual Disability Argonaute Proteins Genetics Humans Muscle Hypotonia Eukaryotic Initiation Factors Genetics (clinical)
Zdroj:	Clinical Genetics. 101:459-465
ISSN:	1399-0004 0009-9163
Popis:	AGO1, as one of the rare genes in neurodevelopmental disorders, is involved in the microRNA-induced silencing complex. Here, we describe the clinical and genetic features of 18 individuals with de novo AGO1 variants: four new and 14 previously reported. Three variants are identified: two in-frame deletion variants and one missense variant. The spectrum of AGO1-related disorders included global development delay (GDD), intellectual disability (ID) with or without epilepsy, autism spectrum disorder, hypotonia and dysmorphisms. Focal seizures are the most common type of seizure, occasionally with atypical absence. Mild deafness may be a new phenotype of AGO1-releated disease. Gly199Ser may be a hot-spot variant of AGO1 with the same phenotype: GDD/ID, intractable epilepsy, remarkably with Rolandic discharges, and even reaching electrical status epilepticus during sleep.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d43bf738def980d3648062aab6624d https://doi.org/10.1111/cge.14114 Zobrazit plný text záznamu Plný text