Kleefstra T. et al have delineated the genetics of the subtelomeric 9q34.3 deletion, also recently renamed as Kleefstra syndrome (OMIM number 610253). In a 2009 paper they reported there is not correlation between the size of the deleted region and the severity of the clinical characteristics. Based on this evidence, the authors suggested that the EHMT1 gene may be the major player in the pathogenesis of the syndrome. In fact, not only 9q34.3 deletions can cause the syndrome, but also simple mutations within the sequence of this gene. On the clinical side, Kleefstra points out on the possibility for some patients to develop severe psychiatric illness. For further information, image galleries and help, you may visit www.kleefstrasyndrome.org.
References
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. 2009 Sep;46(9):598-606. PMID: 19264732
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 610253 (last edited 25 Feb 2010). URL: http://www.ncbi.nlm.nih.gov/omim/610253. Consulted on 25 Sep 2010.
