과제정보
This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Korea (grant no. NRF-2017R1D1A3A03000532).
참고문헌
- Edmondson AC, Kalish JM. Overgrowth syndromes. J Pediatr Genet 2015;4:136-43. https://doi.org/10.1055/s-0035-1564440
- 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
- Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet 2015;60:339-42. https://doi.org/10.1038/jhg.2015.26
- Cohen AS, Gibson WT. EED-associated overgrowth in a second male patient. J Hum Genet 2016;61:831-4. https://doi.org/10.1038/jhg.2016.51
- Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L. Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A 2017;173:541-5. https://doi.org/10.1002/ajmg.a.38055
- Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, et al. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat 2017;38:637-48. https://doi.org/10.1002/humu.23200
- Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, et al. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet 2018;63:517-20. https://doi.org/10.1038/s10038-017-0391-x
- Cyrus S, Burkardt D, Weaver DD, Gibson WT. PRC2-complex related dysfunction in overgrowth syndromes: a review of EZH2, EED, and SUZ12 and their syndromic phenotypes. Am J Med Genet C Semin Med Genet 2019;181:519-31. https://doi.org/10.1002/ajmg.c.31754
- Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, et al. EED and EZH2 constitutive variants: a study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. Am J Med Genet A 2019;179:588-94. https://doi.org/10.1002/ajmg.a.61066
- Spellicy CJ, Peng Y, Olewiler L, Cathey SS, Rogers RC, Bartholomew D, et al. Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? J Hum Genet 2019;64:561-72. https://doi.org/10.1038/s10038-019-0585-5
- Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, et al. DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes. Am J Hum Genet 2020;106:596-610. https://doi.org/10.1016/j.ajhg.2020.03.008