Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability.

European journal of medical genetics - 1 Mar 2022

Krenn Martin, Kepa Sylvia, Kasprian Gregor, Riedhammer Korbinian M, Wagner Matias, Goedl-Fleischhacker Ursula, Milenkovic Ivan

Abstract excerpt

Variants in CSDE1, a gene encoding a constrained RNA-binding protein, have recently been associated with a spectrum of neurodevelopmental conditions encompassing autism, seizures and ocular abnormalities. According to previously reported individuals, pathogenic variants in CSDE1 are typically associated with developmental delay and intellectual disability. Here, we report one individual with normal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to RNA-Binding Proteins

Share to Seizures

Source

Identifiers

PMID: 35026469
DOI: 10.1016/j.ejmg.2022.104423

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability.PMID 35026469Read ↗

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.Semantic proximity Read ↗

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.Semantic proximity Read ↗

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.Semantic proximity Read ↗

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.Semantic proximity Read ↗

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.Semantic proximity Read ↗

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.Semantic proximity Read ↗

Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.Semantic proximity Read ↗

Genetic Diversity in Schizophrenia: Developmental Implications of Ultra-Rare, Protein-Truncating Mutations.Semantic proximity Read ↗

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.Semantic proximity Read ↗

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.Semantic proximity Read ↗

A complex duplication overlapping <i>FBRSL1</i> implicated in a developmental and epileptic encephalopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.