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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Vulto-van Silfhout AT, et al. Among authors: reardon sn. Am J Hum Genet. 2014 May 1;94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726472 Free PMC article.
DEAF1 binds unmethylated and variably spaced CpG dinucleotide motifs.
Jensik PJ, Vargas JD, Reardon SN, Rajamanickam S, Huggenvik JI, Collard MW. Jensik PJ, et al. Among authors: reardon sn. PLoS One. 2014 Dec 22;9(12):e115908. doi: 10.1371/journal.pone.0115908. eCollection 2014. PLoS One. 2014. PMID: 25531106 Free PMC article.