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FMRP expression as a potential prognostic indicator in fragile X syndrome

✍ Scribed by Tassone, Flora; Hagerman, Randi J.; Ikl�, David N.; Dyer, Pamela N.; Lampe, Megan; Willemsen, Rob; Oostra, Ben A.; Taylor, Annette K.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
65 KB
Volume
84
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990528)84:3<250::aid-ajmg17>3.0.co;2-4

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✦ Synopsis

Absence or deficit of FMR1 protein (FMRP) resulting from methylation of full mutation genes is the fundamental defect in fragile X syndrome. We used FMRP immunocytochemistry and detailed phenotypic assessment to investigate the relationship between degree of FMRP expression and the broad clinical spectrum of impairment in 80 individuals affected with fragile X syndrome. FMRP expression correlated with IQ in mosaic males (P=0.043), males with a partially methylated full mutation (P=0.0005), and females with a full mutation (P=0.046). In the females, FMRP expression also correlated with the number of fragile X physical features (P=0.0003). Even modest deficits in FMRP result in some manifestations of fragile X syndrome. In this initial study of 53 males, FMRP expression testing had a very high positive predictive value (100%, confidence interval of 29-100%) for a nonretarded IQ among males with expression of FMRP in > or = 50% of lymphocytes (3 males), suggesting that FMRP expression may have potential as a prognostic indicator in males with fragile X syndrome.

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