Article

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

2020-12-23

Abstract excerpt

<h4>ABSTRACT</h4> High-impact pathogenic variants in more than 1,000 protein-coding genes cause Mendelian forms of neurodevelopmental disorders (NDD), including the newly reported AGO2 gene. This study describes the molecular and clinical characterization of 28 probands with NDD harboring heterozygous AGO1 coding variants. De novo status was always confirmed when parents were available (26/28). A total of 15 u...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d6422ea6-936f-5bc2-80d6-80a1eec54a9a
DOI: 10.1101/2020.12.23.424103

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityDOI 10.1101/2020.12.23.424103Read

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disabilitySemantic proximity Read

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

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndromeSemantic proximity Read

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.Semantic proximity Read

A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.Semantic proximity Read

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patientsSemantic proximity Read

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease geneSemantic proximity Read

<i>De novo</i> Variants in Neurodevelopmental Disorders with EpilepsySemantic proximity Read

Modeling neurodevelopmental disorder-associated <i>hAGO1</i> mutations in <i>C. elegans</i> Argonaute <i>ALG-1</i>Semantic proximity Read

Noncoding <i>de novo</i> mutations contribute to autism spectrum disorder via chromatin interactionsSemantic proximity Read

<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disordersSemantic proximity Read

Saturation genome editing of<i>RNU4-2</i>reveals distinct dominant and recessive neurodevelopmental disordersSemantic proximity Read