title: Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
authors.forename: B B
authors.initials: BB
authors.lastname: de Vries
authors.forename: S
authors.initials: S
authors.lastname: Mohkamsing
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: E
authors.initials: E
authors.lastname: Mol
authors.forename: K
authors.initials: K
authors.lastname: Gelsema
authors.forename: M
authors.initials: M
authors.lastname: van Rijn
authors.forename: A
authors.initials: A
authors.lastname: Tibben
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: H J
authors.initials: HJ
authors.lastname: Duivenvoorden
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
mesh_terms: D000293:Adolescent; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008403:Mass Screening / Q000379:methods / Q000706:statistics & numerical data; D009426:Netherlands / Q000453:epidemiology; D010808:Physical Examination; D018911:Trinucleotide Repeats