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Review
. 2018 Jun;176(6):1375-1388.
doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25.

X-linked intellectual disability update 2017

Giovanni Neri  1   2 , Charles E Schwartz  1 , Herbert A Lubs  1 , Roger E Stevenson  1
Affiliations
Review

X-linked intellectual disability update 2017

Giovanni Neri et al. Am J Med Genet A. 2018 Jun.

Abstract

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.

Keywords: X-chromosome; XLID; genes; intellectual disability; syndrome.

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Conflict of interest statement

Conflicts of Interest: All authors declare that there are no conflicts of interest.

Figures

Figure 1
Figure 1
Regional locations of genes associated with XLID syndromes. Bolded genes have also been associated with nonsyndromal XLID. Genes underlined have been challenged by Piton et al. 2013. Color figure can be viewed in the online issue.
Figure 2
Figure 2
Progress in identifying XLID syndromes and associated genes, 1988-2017. Color figure can be viewed in the online issue.
Figure 3
Figure 3
Families with nonsyndromal XLID which have received IDX numbers. Their total is currently 105. Linkage limits for IDX families for which the genes have not been identified are shown to the right. Color figure can be viewed in the online issue.
See this image and copyright information in PMC

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