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X-linked intellectual disability update 2017
Giovanni Neri1,2, Charles E Schwartz1, Herbert A Lubs1
1J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
American Journal of Medical Genetics. Part A
|April 27, 2018
Summary
Genetic research has identified 141 X-linked intellectual disability (XLID) genes, a 96% increase in a decade. However, understanding the impact of these genetic changes on patient diagnosis and treatment remains a challenge.
Area of Science:
- Genetics
- Neuroscience
- Genomic Medicine
Background:
- The X-chromosome, despite its small size, harbors a significant proportion of genes linked to intellectual disability.
- Previous research identified 72 X-linked intellectual disability (XLID) genes.
Purpose of the Study:
- To document the recent advancements in identifying XLID-associated genes.
- To highlight the gap between genetic discoveries and their clinical and biological applications.
Main Methods:
- High-throughput technologies, including high-resolution microarrays and next-generation sequencing.
- Review of genetic and genomic alterations associated with XLID.
Main Results:
- The number of identified XLID genes has increased by 96%, from 72 to 141 in the last 10 years.
- Duplications in all 141 identified XLID genes have been documented.
- Despite progress in gene identification, clinical diagnostic tools and therapeutic strategies have not advanced commensurately.
Conclusions:
- While high-throughput technologies have significantly accelerated the discovery of XLID genes, this progress has not translated into improved clinical diagnostics or therapeutic options.
- Further research is needed to understand the functional impact of identified genetic alterations on cellular organization and function to inform patient care and develop targeted therapies.
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