X-linked intellectual disability update 2017.
X-linked intellectual disability update 2017.
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DOI：
10.1002/ajmg.a.38710
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发表时间：
2018-06
期刊：
影响因子：
--
通讯作者：
Stevenson RE
中科院分区：
文献类型：
--
作者：
Neri G;Schwartz CE;Lubs HA;Stevenson RE
X染色体仅占人类基因组的5%，但占目前已知与智力残疾有关的基因的15%。通过连锁分析和候选基因测序鉴定XLID相关基因的早期进展随着高通量技术的使用而加速。自上次更新以来的10年中，与XLID相关的基因数量增加了96%，从72个增加到141个，并且所有141个XLID基因的重复都已被描述，主要是通过应用高分辨率微阵列和下一代测序。在识别与XLID相关的遗传和基因组改变方面的进展还没有与提高临床医生形成鉴别诊断的能力的见解相匹配，这些见解使人们看到了患者治愈性治疗的可能性，或者告知科学家遗传改变对细胞组织和功能的影响。
The X-chromosome comprises only about 5 percent of the human genome but accounts for about 15 percent of the genes currently known to be associated with intellectual disability. The early progress in identifying the XLID-associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of high throughput technologies. In the 10 years since the last update, the number of genes associated with XLID has increased by 96 percent from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function.
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