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Article

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Human genetics - 1 May 2018

Fritzen Daniel, Kuechler Alma, Grimmel Mona, Becker Jessica, Peters Sophia, Sturm Marc, Hundertmark Hela, Schmidt Axel, Kreiß Martina, Strom Tim M, Wieczorek Dagmar, Haack Tobias B, Beck-Wödl Stefanie, Cremer Kirsten, Engels Hartmut

Abstract excerpt

Intellectual disability (ID) has an estimated prevalence of 1.5-2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that a large proportion of sporadic ID cases results from de novo mutations. Here, we present two unrelated individuals with similar clinical features and deleterious de...

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Exome
Exome Sequencing
F-Box Proteins
Frameshift Mutation
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Protein-Arginine N-Methyltransferases

Source

Identifiers

PMID: 29796876
DOI: 10.1007/s00439-018-1892-1

Genes

FBXO11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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