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Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis by D.Z. Loesch; R.M. Huggins; Q.M. Bui; A.K. Taylor; C. Pratt; J. Epstein; R.J. Hagerman is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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## Abstract The effect of the fragile X pre‐mutation and full mutation categories, and FMRP deficits in these categories, on neurocognitive status, have been assessed in fragile X individuals from 144 extended families, which included fragile X individuals, as well as their non‐fragile X relatives. Neuropsychological status was assessed by the Wechsler summary and subtest test scores. A modification of the maximum likelihood estimators for pedigree data that is resistant to outliers was used to analyze the data. The results have demonstrated the effect of large expansions of CGG repeat in the __FMR1__ (fragile X mental retardation 1) gene (full mutation) in decreasing full scale IQ (FSIQ), as well as several FSIQ‐adjusted subtest scores in the performance domain. Moreover, the results have demonstrated significant cognitive deficits in male individuals with pre‐mutation. FMRP depletion correlates strongly with neurocognitive status in the full mutation subjects. Evidence for the effect of FMRP in smaller expansions (pre‐mutation) in reducing FSIQ, Performance and Verbal scores, as well as subtest scores in males, has also been obtained. The results are also suggestive of factors ot
Who reads Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- D.Z. Loesch; R.M. Huggins; Q.M. Bui; A.K. Taylor; C. Pratt; J. Epstein; R.J. Hagerman
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 2003
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)