Article
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
Clinical genetics - 1 Aug 2007
Govaerts L C P, Smit A E, Saris J J, VanderWerf F, Willemsen R, Bakker C E, De Zeeuw C I, Oostra B A
Abstract excerpt
Fragile X (FRAX) syndrome is a commonly inherited form of mental retardation resulting from the lack of expression of the fragile X mental retardation protein (FMRP). It is caused by a stretch of CGG repeats within the fragile X gene, which can be unstable in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, the FMR1 gene is methylated and no protein is...
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