References
Lopez AJ, Wood MA (2015) Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. Front Behav Neurosci 9:100. doi:10.3389/fnbeh.2015.00100
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A (2015) Coffin-Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain Dev 37(5):527–536. doi:10.1016/j.braindev.2014.08.009
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR (2012) Heterozygous missense mutations in SMARCA2 cause Nicolaides–Baraitser syndrome. Nat Genet 44(4):445–449, S441. doi:10.1038/ng.1105
Sousa SB, Hennekam RC, Nicolaides–Baraitser Syndrome International Consortium (2014) Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet 166C(3):302–314. doi:10.1002/ajmg.c.31409
Santen GW, Kriek M, van Attikum H (2012) SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics 7(11):1219–1224. doi:10.4161/epi.22299
Pagenstecher A, Stahl S, Sure U, Felbor U (2009) A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet 18(5):911–918. doi:10.1093/hmg/ddn420
McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA (2011) A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. Hum Mol Genet 20(2):211–222. doi:10.1093/hmg/ddq433
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (2009) Nicolaides–Baraitser syndrome: delineation of the phenotype. Am J Med Genet A 149A(8):1628–1640. doi:10.1002/ajmg.a.32956
Nicolaides P, Baraitser M (1993) An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2(3):232–236
Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P (2004) Clinical course of genetic diseases of the insulin receptor (type A and Rabson–Mendenhall syndromes): a 30-year prospective. Medicine 83(4):209–222
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Pretegiani, E., Mari, F., Renieri, A. et al. Nicolaides–Baraitser syndrome: defining a phenotype. J Neurol 263, 1659–1660 (2016). https://doi.org/10.1007/s00415-016-8194-0
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DOI: https://doi.org/10.1007/s00415-016-8194-0