Title: Mental status of females with an FMR1 gene full mutation
Authors: de Vries, B B ×
Wiegers, A M
Smits, A P
Mohkamsing, S
Duivenvoorden, H J
Fryns, Jean-Pierre
Curfs, L M
Halley, D J
Oostra, B A
van den Ouweland, A M
Niermeijer, M F #
Issue Date: May-1996
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:58 issue:5 pages:1025-32
Abstract: The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler Adult Intelligence Scale in 33 adult females with a full mutation, with 28 first-degree adult female relatives (mainly sisters) without a full mutation as controls. Seventy-one percent of the females with a full mutation had IQ scores below 85. In paired analysis, no significant correlation could be detected between the IQs of the females with a full mutation and those of their first-degree female relatives, reflecting a dominant effect of the FMR1 gene full mutation in the mental development of females. Considering females with a full mutation only, we observed a significant relation between the proportion of normal FMR1 alleles on the active X chromosome and IQ. We present a model to explain this relationship.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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