Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jan;191(1):144-159.
doi: 10.1002/ajmg.a.63008. Epub 2022 Oct 27.

X-Linked intellectual disability update 2022

Charles E Schwartz  1 , Raymond J Louie  1 , Annick Toutain  2 , Cindy Skinner  1 , Michael J Friez  1 , Roger E Stevenson  1
Affiliations

X-Linked intellectual disability update 2022

Charles E Schwartz et al. Am J Med Genet A. 2023 Jan.

Abstract

Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X-chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes.

Keywords: X-chromosome; genes; intellectual disability.

PubMed Disclaimer

References

REFERENCES

    1. Ahmad, W., Fusco, M. D., Haque, M. F., Sarno, T., Aridon, P., Ahmad, M., ul Haque, S., Selicom, A., Bedeschl, C., Ballabio, A., Franco, B., & Casari, G. (1997). Mapping of three new loci for X-linked mental retardations. American Journal of Human Genetics, 61, A265.
    1. Akiyama, M., Kawame, H., Ohashi, H., Tohma, T., Ohta, H., Shishikura, A., Miyata, I., Usui, N., & Eto, Y. (2001). Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation. American Journal of Medical Genetics, 99, 111-114. https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1150>3....
    1. Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., … Lockhart, P. J. (2019). Pathogenic variants in GPC4 cause Keipert syndrome. American Journal of Human Genetics, 104, 914-924. https://doi.org/10.1016/j.ajhg.2019.02.026
    1. Annunziata, I., Lanzara, C., Conte, I., Zullo, A., Ventruto, V., Rinaldi, M. M., D'Urso, M., Casari, G., Ciccodicola, A., & Miano, M. G. (2003). Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. American Journal of Medical Genetics, Part A, 118A, 217-222. https://doi.org/10.1002/ajmg.a.10144
    1. Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., France, G. D., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J.-C., Lacombe, D., Van-Gils, J., Fergelot, P., Dubourg, C., Cormier-Daire, V., Rondeau, S., Lecoquierre, F., Saugier-Veber, P., Nicolas, G., Lesca, G., Chatron, N., Sanlaville, D., … Sadikovic, B. (2020). Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders. American Journal of Human Genetics, 106, 356-370. https://doi.org/10.1016/j.ajhg.2020.01.019

Publication types

LinkOut - more resources