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由X染色体引发的智力残疾的遗传图谱。

The genetic landscape of intellectual disability arising from chromosome X.

作者信息

Gécz Jozef, Shoubridge Cheryl, Corbett Mark

机构信息

Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.

出版信息

Trends Genet. 2009 Jul;25(7):308-16. doi: 10.1016/j.tig.2009.05.002. Epub 2009 Jun 24.

Abstract

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.

摘要

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。

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