de Vries L B, Oostra B A
Erasmus Universiteit, afd. Klinische Genetica, Postbus 1738, 3000 DR Rotterdam.
Ned Tijdschr Geneeskd. 2001 Mar 10;145(10):474-6.
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.
脆性X综合征是家族性智力残疾最常见的病因。“脆性X智力低下”(FMR1)基因的鉴定揭示了一种新的遗传机制:一种代际不稳定的胞嘧啶-鸟嘌呤-鸟嘌呤(CGG)重复序列,当重复次数超过200次的阈值时会导致FMR1蛋白缺失,进而导致家族性智力迟钝。