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Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome
Author(s) -
Lessard M,
Chouiali A,
Drouin R,
Sébire G,
Corbin F
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01798.x
Subject(s) - fragile x syndrome , fmr1 , wechsler adult intelligence scale , intelligence quotient , population , fragile x , platelet , autism , vineland adaptive behavior scale , receiver operating characteristic , biology , genetics , cognition , psychology , gene , medicine , developmental psychology , neuroscience , immunology , environmental health
Lessard M, Chouiali A, Drouin R, Sébire G, Corbin F. Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome. The fragile X syndrome usually results from CGG repeats expansion and methylation of the FMR1 gene leading to the absence of expression of its encoded protein, fragile X mental retardation protein (FMRP). Therefore, its diagnosis is traditionally based on the detection of these molecular alterations. As an alternative, FMRP‐based screening methods have been proposed over the years. Most of them are based on immunohistochemistry analyses applied to a restricted number of lymphocytes (100) or hair roots (10–20) with limited diagnosis potential. In this study, we describe a truly quantitative approach using a new model, the blood platelet, which can be recovered easily with very high purity (99.9%). FMRP levels in platelets were first measured in a control population ( n = 124) and reference values were established. FMRP measurements were also performed in confirmed fragile X subjects. Receiver operating characteristic curve analysis has shown that our test can easily discriminate fragile X males and females from controls (area under curve, AUC = 0.948). Cognitive functions were also assessed in these individuals using age‐specific Wechsler Intelligence Scales for Children and the Vineland Adaptive Behavior Scales. A proportional relationship between FMRP levels, intelligence quotient and adaptive behavior was observed among fragile X individuals, suggesting that our test would be able to detect fragile X cases and may predict cognitive functions.