Thankfully there are organizations devoted to supporting and advocating for individuals with rare genetic conditions. The following is a list of a few of these with a focus on those that include information on Smith-Kingsmore syndrome.
Genetics Home Reference is a consumer health website from the National Library of Medicine, which is part of the National Institutes of Health, an agency of the U.S. Department of Health and Human Services. The website provides information for the general public about the effects of genetic variation on human health.
The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The RARE Foundation Alliance is a network of over 500 foundations and support groups all connected to the rare disease community.
Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders. Genetic Disorders UK is run by a small team that also organizes the annual Jeans for Genes Day fundraising event.
Rare Disease UK is the national campaign in the UK for people with rare diseases and all who support them. It is run by Genetic Alliance UK, the national charity of over 190 patient organizations, supporting all those affected by genetic conditions.
We appreciate the support and interest of the caring individuals who are researching mutations of the MTOR gene and Smith-Kingsmore syndrome. We are thankful for their efforts to better understand this condition.
Much of this site’s content is based on Gordo et al (2018) and Mirzaa et al (2016). Our goal is to provide accurate, science-based information on Smith-Kingsmore syndrome. We are especially grateful to Drs. Ghayda Mirzaa and Víctor Martínez-Glez for reviewing and recommending edits to make sure we achieve that goal.
Some scientific research has been already conducted and several papers are now available with more information on Smith-Kingsmore syndrome. The following is a list of some of these:
- Gordo G, Tenorio J, Arias P, et al. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018;1–14. https://doi.org/10.1111/cge.13135
- Moosa, S., Bohrer-Rabel, H., Altmuller, J., et al. Smith-Kingsmore syndrome: a third family with the MTOR mutation c.5395G-A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. J. Med. Genet. 173A: 264-267, 2017.
- Moller, R. S., Weckhuysen, S., Chipaux, M., et al. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Genet. 2: e118, 2016. Note: Electronic Article.
- Mirzaa GM, Campbell CD, Solovieff N, et al. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol. 2016;73:836–845.
- Baynam, G., Overkov, A., Davis, M., et al. A germline MTOR mutation in aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. J. Med. Genet. 167A: 1659-1667, 2015.
- Mroske, C., Rasmussen, K., Shinde, D. N., et al. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.BMC Med. Genet. 16: 102, 2015. Note: Electronic Article.
- Smith, L. D., Saunders, C. J., Dinwiddie, D. L., et al. Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. Genomes Exomes 2: 63-72, 2013.
- Lee, J. H., Huynh, M., Silhavy, J. L., et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nature Genet. 44: 941-945, 2012.