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NEDGFC

Chr 10

FRA10A associated CGG repeat 1

Also known as: C10orf4, F26C11.1-like, FRA10A, NEDGFC

NCBI Gene: 118924

This nuclear phosphoprotein has unknown function but contains a CGG repeat region that can expand from the normal 8-14 repeats to over 200 repeats, leading to gene hypermethylation and reduced expression. Biallelic mutations cause a neurodevelopmental disorder with growth retardation, dysmorphic facial features, and corpus callosum abnormalities, inherited in an autosomal recessive pattern. The gene is located within the FRA10A fragile site, though expanded repeats have not yet been definitively associated with disease phenotypes.

ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)