SHANK3
MIM.606230 22q13.3
Pathology
SHANK3 mutation in 22q13.3 deletion syndrome (MIM.606232)
References
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW.Contribution of SHANK3 Mutations to Autism Spectrum Disorder.Am J Hum Genet. 2007 Dec;81(6):1289-97. PMID: 17999366
Wilson, H. L.; Wong, A. C. C.; Shaw, S. R.; Tse, W.-Y.; Stapleton, G. A.; Phelan, M. C.; Hu, S.; Marshall, J.; McDermid, H. E. : Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J. Med. Genet. 40: 575-584, 2003. PubMed ID : 12920066
Wong, A. C. C.; Ning, Y.; Flint, J.; Clark, K.; Dumanski, J. P.; Ledbetter, D. H.; McDermid, H. E. : Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am. J. Hum. Genet. 60: 113-120, 1997. PubMed ID : 8981954