A family with two female siblings with compound heterozygous FMR1 premutation alleles. (28th July 2013)

• Record Type: Journal Article
• Authors: Basuta, K.; Lozano, R.; Schneider, A.; Yrigollen, C.M.; Hessl, D.; Hagerman, R.J.; Tassone, F.
• Is Part Of: Clinical genetics. Volume 85:Number 5(2014:May)
• Page Start: 458
• Page End: 463
• Publication Date: 2013-07-28
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12218
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12218-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12218-para-0001">Premutation alleles (55–200 CGG repeats) of the fragile X mental retardation (<italic>FMR1</italic>) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele (&lt;55 CGG repeats). Although rare, seven cases of females that carry two expanded alleles (compound heterozygous premutation) have been reported. Here, we report on four members of a family including two compound heterozygous premutation sisters with similar CGG allele sizes, affected with different levels of clinical severity.</p> </abstract>