Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26.
X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.
X 连锁智力障碍（XLID），也称为 X 连锁智力迟钝，是一种高度遗传异质性的疾病，已经确定了 >90 种不同基因的突变。在这项研究中，我们使用了基于 Affymetrix 50k 平台的定制测序芯片，对来自 135 个家系的 17 个已知 XLID 基因的患者进行了突变筛选，发现了 8 个在对照组中不存在的单核苷酸变化。对于影响 ATRX（p.1761M>T）、PQBP1（p.155R>X）和 SLC6A8（p.390P>L 和 p.477S>L）的四个突变，我们提供了这些变化在智力障碍发病机制中具有功能相关性的证据。
