References
- Philibert RA, Madan A. 2007. Role of MED12 in transcription and human behavior. Pharmacogenomics. 8(8):909–16. doi:10.2217/14622416.8.8.909
- Opitz JM, Kaveggia EG. 1974. Studies of malformation syndromes of man XXXIII: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Zeitschrift für Kinderheilkunde. 117(1):1–18. doi:10.1007/BF00439020
- Graham JM Jr., Schwartz CE. 2013. MED12 related disorders. Am J Med Genet A. 161a(11):2734–40. doi:10.1002/ajmg.a.36183
- Rump P, Hordijk R, De Raad M, Niessen RC. Novel MED12 mutation in Opitz-Kaveggia syndrome. Genet Couns. 2010;21(1):121–22.
- Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis. 2006;1:26–26. doi:10.1186/1750-1172-1-26.
- Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA. 2015. Beyond Ohdo syndrome: a familial missense mutation broadens the MED12 spectrum. Am J Med Genet A. 167a(12):3180–85. doi:10.1002/ajmg.a.37354
- Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, et al. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A. 2013;161a(12):3063–71. doi:10.1002/ajmg.a.36162.
- Polla DL, Bhoj EJ, Verheij J, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, et al. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genet Med. 2021;23(4):645–52. doi:10.1038/s41436-020-01040-6.
- Wang C, Lin L, Xue Y, Wang Y, Liu Z, Ou Z, Wu S, Lan X, Zhang Y, Yuan F, et al. MED12-related disease in a Chinese girl: clinical characteristics and underlying mechanism. Front Genet. 2020;11:129–129.
- Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, et al. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016;59(8):367–72. doi:10.1016/j.ejmg.2016.06.001.
- Bouazzi H, Lesca G, Trujillo C, Alwasiyah MK, Munnich A. 2015. Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. Clin Case Rep. 3(7):604–09. doi:10.1002/ccr3.301
- Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, et al. A novel MED12 mutation: evidence for a fourth phenotype. Am J Med Genet A. 2016;170a(9):2377–82. doi:10.1002/ajmg.a.37805.
- Narayanan DL, Phadke SR. 2017. A novel variant in MED12 gene: further delineation of phenotype. Am J Med Genet A. 173a(8):2257–60. doi:10.1002/ajmg.a.38295
- Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007;44(7):472–77. doi:10.1136/jmg.2006.048637.
- Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, et al. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A. 2014;164a(7):1821–25. doi:10.1002/ajmg.a.36539.
- Risheg H, Graham JM Jr., Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39(4):451–53. doi:10.1038/ng1992.
- Clark RD, Graham JM Jr., Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, et al. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009;11(11):769–75. doi:10.1097/GIM.0b013e3181bd3d90.
- McCardle P, Wilson B. 1993. Language and development in FG syndrome with callosal agenesis. J Commun Disord. 26(2):83–100. doi:10.1016/0021-9924(93)90002-R
- Graham JM Jr., Clark RD, Moeschler JB, Rogers RC. 2010. Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). Am J Med Genet C Semin Med Genet. 154c(4):477–85. doi:10.1002/ajmg.c.30284
- Vulto-van Silfhout AT, De Vries BB, Van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, Van Essen AJ, et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92(3):401–06. doi:10.1016/j.ajhg.2013.01.007.
- Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K. 2020. A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. Congenit Anom (Kyoto). 60(3):91–93. doi:10.1111/cga.12350
- Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015;23(11):1513–18. doi:10.1038/ejhg.2015.5.