FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. (13th October 2013)

• Record Type: Journal Article
• Authors: Santa María, L.; Pugin, A.; Alliende, M.A.; Aliaga, S.; Curotto, B.; Aravena, T.; Tang, H.‐T.; Mendoza‐Morales, G.; Hagerman, R.; Tassone, F.
• Is Part Of: Clinical genetics. Volume 86:Number 4(2014:Oct.)
• Page Start: 378
• Page End: 382
• Publication Date: 2013-10-13
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12278
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12278-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12278-para-0001">Carriers of an <italic>FMR1</italic> premutation allele (55–200 CGG repeats) often develop the neurodegenerative disorders, fragile X‐associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an <italic>FMR1</italic> unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated <italic>FMR1</italic>‐mRNA expression levels and subsequent RNA toxicity.</p> </abstract>