Hillig U
Brain Dev. 1985;7(3):368-71. doi: 10.1016/s0387-7604(85)80047-4.
Ever since its recognition as a separate disease, the Rett syndrome has been reported to afflict girls only. For this reason, heredity has consistently remained at the forefront of discussions regarding putative causes. On account of the gravity of the disorder and the want for adequate therapy, the clarification of its genesis is of great practical importance in consideration of the possibility of descendants. J Wahlström reports a breakpoint at Xp22 in two sisters with the disease and in their healthy mother. This finding is questionable as being typical of the syndrome in light of recent chromosomal findings. In addition to Wahlström's two-step-mutation hypothesis, an earlier suggestion of an X-chromosomal dominant new mutation is under discussion again. Further genetic findings are expected from a yet-to-be-completed interpretation of all relevant data hitherto observed in approximately 160 probands and their families.
自被确认为一种独立疾病以来，据报道雷特综合征仅折磨女孩。因此，在关于可能病因的讨论中，遗传因素一直处于前沿位置。鉴于该疾病的严重性以及对适当治疗的需求，考虑到后代患病的可能性，阐明其发病原因具有重大的实际意义。J·瓦尔斯特伦报告称，在两名患有该疾病的姐妹及其健康母亲中，发现Xp22存在断点。根据最近的染色体研究结果，这一发现作为该综合征的典型特征值得怀疑。除了瓦尔斯特伦的两步突变假说外，关于X染色体显性新突变的早期提议再次受到讨论。对迄今在大约160名先证者及其家族中观察到的所有相关数据进行尚未完成的解读，有望获得更多的遗传学发现。
