Neri Giovanni, Schwartz Charles E, Lubs Herbert A, Stevenson Roger E
J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
Istituto di Medicina Genomica, Università Cattolica del S. Cuore, Rome, Italy.
Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25.
The X-chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X-linked intellectual disability (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% 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.
X染色体仅占人类基因组的约5%，但在目前已知与智力残疾相关的基因中约占15%。通过连锁分析和候选基因测序来鉴定与X连锁智力残疾（XLID）相关基因的早期进展，随着高通量技术的应用而加速。自上次更新以来的10年里，与XLID相关的基因数量从72个增加了96%，达到141个，并且已经描述了所有141个XLID基因的重复情况，主要是通过应用高分辨率微阵列和新一代测序技术实现的。在确定与XLID相关的遗传和基因组改变方面所取得的进展，并未带来相应的见解，以提高临床医生进行鉴别诊断的能力、让人们看到对患者进行治愈性治疗的可能性，或者告知科学家这些遗传改变对细胞组织和功能的影响。
