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Article

De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.

Clinical genetics - 1 Apr 2022

Niu Yue, Qian Qiaoqiao, Li Juan, Gong Pan, Jiao Xianru, Mao Xiao, Xiao Bo, Long Lili, Yang Zhixian

Abstract excerpt

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...

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Identifiers

PMID: 35060114
DOI: 10.1111/cge.14114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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