Gécz Jozef, Shoubridge Cheryl, Corbett Mark
Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Trends Genet. 2009 Jul;25(7):308-16. doi: 10.1016/j.tig.2009.05.002. Epub 2009 Jun 24.
X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600-1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, approximately 11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.
X连锁智力迟钝(XLMR)或智力残疾(ID)是一种常见的、临床复杂且基因异质性的疾病,由X染色体上的许多突变引起。它影响着1/600 - 1/1000的男性以及相当数量的女性。过去十年的研究已经鉴定出90多种不同的XLMR基因,影响广泛的细胞过程。还有更多基因尚未得到表征,特别是对于非综合征性XLMR形式。目前,约11%的X染色体基因与XLMR有关;然而,除了少数显著的例外,大多数基因对整个疾病谱的贡献各自不到0.1%,而整个疾病谱可能仅完成了约一半。在智力残疾的全貌完全明晰之前,仍有许多山峰要攀登,许多山谷要跨越。