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Article

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.

Gene - 30 Aug 2020

Carion Nathalie, Briand Audrey, Cuisset Laurence, Pacot Laurence, Afenjar Alexandra, Bienvenu Thierry

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is a monogenic disorder and a common cause of intellectual disability (ID). Up to now, very few pathological variants other than the typical CGG-repeat expansion have been reported in the FMR1 gene. METHODS: A panel of 56 intellectual disability (ID) genes including the FMR1 gene was sequenced in a cohort of 300 patients with unexplained ID. To determine the effect of a new...

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Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Analysis, RNA

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Source

Identifiers

PMID: 32446918
DOI: 10.1016/j.gene.2020.144793

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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