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Psychiatr Genet. 2008 Aug;18(4):153-5. doi: 10.1097/YPG.0b013e3282f97e0b.

Evidence of depressive symptoms in fragile-X syndrome premutated females.

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Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain.



Fragile-X premutation carriers have been considered asymptomatic patients for a long time. It has been, however, demonstrated that the premutation is also involved in clinical pathology, such as premature ovarian failure, the fragile-X-associated tremor/ataxia syndrome, and a distinct neurocognitive and behavioral phenotype, which includes psychiatric problems. To define better this neuropsychiatric phenotype associated with premutation carriers and to minimize a possible environmental effect, we examined psychiatric and depressive symptoms in 34 FMR1 premutation carrier mothers of children with fragile-X syndrome in comparison with two control groups (39 mothers with a non-fragile-X syndrome mentally retarded child and 39 mothers from the general population).


All participants completed both questionnaires, which assess psychiatric symptoms (the symptom checklist-90-revised) and depression (Beck Depression Inventory).


Both groups of mothers with a mentally retarded child showed greater susceptibility to psychological problems than the control group without a mentally retarded child, but FMR1 premutated mothers evidenced a higher tendency to depression. These results suggest that, despite the stress of caring for a child with mental retardation, the premutation by itself could be responsible for some psychiatric traits.


Our findings reinforce the hypothesis of a pathogenic gene-brain-behavior mechanism in the premutation range.

[Indexed for MEDLINE]

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