참고문헌
- Smith LS, Saunders C, Dinwiddie DL, Atherton AM, Miller N, Soden SE, et al. Exome sequencing reveals de novo germline mutation of the mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. J Genome Exome 2013;2013:63-72.
- Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, et al. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin Genet 2018;93:762-75. https://doi.org/10.1111/cge.13135
- Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, et al. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet 2016;2:e118. https://doi.org/10.1212/NXG.0000000000000118
- Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, et al. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-21. https://doi.org/10.1038/nature12439
- Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, et al. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genet A 2015;167:1659-67. https://doi.org/10.1002/ajmg.a.37070
- Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, et al. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. BMC Med Genet 2015;16:102.
- Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, et al. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol 2016;73:836-45. https://doi.org/10.1001/jamaneurol.2016.0363
- Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, et al. Smith-Kingsmore syndrome: a third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Am J Med Genet A 2017;173:264-7. https://doi.org/10.1002/ajmg.a.37999
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
- Jacinto E, Loewith R, Schmidt A, Lin S, Ruegg MA, Hall A, et al. Mammalian TOR complex 2 controls the actin cytoskeleton and is rapamycin insensitive. Nat Cell Biol 2004;6:1122-8. https://doi.org/10.1038/ncb1183
- Hsu PP, Kang SA, Rameseder J, Zhang Y, Ottina KA, Lim D, et al. The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling. Science 2011;332:1317-22. https://doi.org/10.1126/science.1199498
- Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am J Hum Genet 2017;100:725-36. https://doi.org/10.1016/j.ajhg.2017.03.010