在 135 名患者中，基于杂交的 17 个 X 连锁智力障碍基因重测序揭示了 ATRX、SLC6A8 和 PQBP1 中的新突变。
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
机构信息
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
出版信息
Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26.
Abstract
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.
摘要
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。
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