Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardationHow to cite this article: Lugtenberg D, ZangrandeVieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, ViannaMorgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, SchuursHoeijmakers JHM, HehirKwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Rosenberg C, van Bokhoven H, de Brouwer APM. 2010. Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardation. Am J Med Genet Part A 152A:638–645.

Autor: Lugtenberg, Dorien, ZangrandeVieira, Luiz, Kirchhoff, Maria, Whibley, Annabel C., Oudakker, Astrid R., Kjaergaard, Susanne, ViannaMorgante, Angela M., Kleefstra, Tjitske, Ruiter, Mariken, Jehee, Fernanda S., Ullmann, Reinhard, Schwartz, Charles E., Stratton, Michael, Raymond, F. Lucy, Veltman, Joris A., Vrijenhoek, Terry, Pfundt, Rolph, SchuursHoeijmakers, Janneke H.M., HehirKwa, Jayne Y., Froyen, Guy, Chelly, Jamel, Ropers, Hans Hilger, Moraine, Claude, Gècz, Jozef, Knijnenburg, Jeroen, Kant, Sarina G., Hamel, Ben C.J., Rosenberg, Carla, van Bokhoven, Hans, de Brouwer, Arjan P.M.
Zdroj: American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p638-645, 8p
Abstrakt: ZNF630is a member of the primatespecific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674have been shown to be involved in mental retardation. This suggests that mutations of ZNF630might influence cognitive function. Here, we detected 12 ZNF630deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99 sequence identity, indicating that the deletions resulted from nonallelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630deletions were identified. In total, there was a 1.6fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant Pvalue  0.174. Conversely, a 1.9fold lower frequency of ZNF630duplications was observed in patients, which was not significant either Pvalue  0.163. These data do not show that ZNF630deletions or duplications are associated with mental retardation. © 2010 WileyLiss, Inc.
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