[From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene].
The fragile X syndrome is the most common cause of familial intellectual disability. The identification of the 'fragile-X mental retardation' (FMR1) gene disclosed a novel genetic mechanism: an intergenerational instable cytosine-guanine-guanine (CGG) repeat leading to the absence of FMR1 protein above a threshold of 200 repeats and, subsequently, leading to familial mental retardation.
de Vries
L B
LB
Erasmus Universiteit, afd. Klinische Genetica, Postbus 1738, 3000 DR Rotterdam.
Oostra
B A
BA
D000293:Adolescent; D000465:Algorithms; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000032:analysis; D009426:Netherlands / Q000453:epidemiology; D016601:RNA-Binding Proteins / Q000032:analysis; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014960:X Chromosome
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human