PT  - JOURNAL ARTICLE
AU  - Bert B A de Vries
AU  - Serieta Mohkamsing
AU  - Ans M W van den Ouweland
AU  - Esther Mol
AU  - Kirsten Gelsema
AU  - Monique van Rijn
AU  - Aad Tibben
AU  - Dicky J J Halley
AU  - Hugo J Duivenvoorden
AU  - Ben A Oostra
AU  - Martinus F Niermeijer
TI  - Screening for the fragile X syndrome among the mentally retarded: a clinical study
AID  - 10.1136/jmg.36.6.467
DP  - 1999 Jun 01
TA  - Journal of Medical Genetics
PG  - 467--470
VI  - 36
IP  - 6
4099  - http://jmg.bmj.com/content/36/6/467.short
4100  - http://jmg.bmj.com/content/36/6/467.full
SO  - J Med Genet1999 Jun 01; 36
AB  - The fragile X syndrome is characterised by mental retardation with other features such as a long face with large, protruding ears, macro-orchidism, and eye gaze avoidance. This X linked disorder is caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene which is associated with shut down of transcription and absence of the fragile X mental retardation protein (FMRP). Molecular testing is used for detection of patients and carriers of the fragile X syndrome. In a screening programme for the fragile X syndrome in the south west of The Netherlands, 896 males and 685 females with an unknown cause for their mental retardation were scored on seven fragile X features. All were tested by DNA analysis and 11 new cases were diagnosed. The seven item checklist allowed exclusion from further testing in 86% of the retarded males (95% CI 0.83-0.88) without missing either any of the newly diagnosed cases or, in retrospect, any of the 50 previously diagnosed cases known to our department. These results showed that clinical preselection for DNA testing in mentally retarded males is feasible using a simple scoring list, which will increase the efficiency of further testing eightfold.