[Molecular pathogenesis of fragile X syndrome].
The fragile X syndrome is an X-linked genetic disorder; manifesting primarily as intellectual disability. The disease is caused by the absence of functional FMRP, a protein encoded by the FMR1 gene. The expansion of trinucleotide repeats within the first exon of the gene contributes to most cases of the syndrome. This review summarizes the present knowledge of the relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with disease.
Sielska
Danuta
D
Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland. dsielska@imid.med.pl
Milewski
Michal
M
Bal
Jerzy
J
D002873:Chromosome Fragility; D004252:DNA Mutational Analysis; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics*; D016601:RNA-Binding Proteins; D019680:Trinucleotide Repeat Expansion
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human