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Fragile X syndrome. I. An overview on its genetic mechanism

Published online by Cambridge University Press:  16 April 2020

B Barbe ,
P Franke ,
W Maier  and
M Leboyer
B Barbe
Affiliation:
CNRS, URA 1957, Hôpital Pitié-Salpêtrière, Paris75651 cedex 13 Service de Psychiatrie Adulte, Prof JF Allilaire,Hôpital Pité-Salpêtrière, Paris75651 cedex 13, France
P Franke
Affiliation:
Department of Psychiatry, University of Bonn, Bonn, Germany
W Maier
Affiliation:
Department of Psychiatry, University of Bonn, Bonn, Germany
M Leboyer
Affiliation:
CNRS, URA 1957, Hôpital Pitié-Salpêtrière, Paris75651 cedex 13 Service de Psychiatrie Adulte, Prof JF Allilaire,Hôpital Pité-Salpêtrière, Paris75651 cedex 13, France
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Summary

A large body of literature has accumulated within the last decade concerning the fragile X syndrome, the most common cause of X-linked mental retardation. The first article of this review summarizes the peculiar genetic mechanisms and molecular biology properties (eg, unstable DNA triplet repeats), which have been characterized since the detection of the FMR-1 gene in 1991. However, the most important question concerning the function of the FMR-1 gene is still an unresolved issue and is in need of future research. The second article of this review addresses the clinical picture, neuropsychological functioning and psychopathological characteristics of pre- and full mutation carriers.

Keywords

fragile X syndromeunstable DNA triplet repeatsanticipationFMR-1neuropsychologypsychopathology
Type
Original article
Information
European Psychiatry , Volume 11 , Issue 5 , 1996 , pp. 227 - 232
Copyright
Copyright © Elsevier, Paris 1996

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