The LCR at the IKBKG Locus Is Prone to Recombine

Authors :: Maria Giuseppina Miano
Michele D'Urso
Matilde Valeria Ursini
Francesca Fusco
Source :: American journal of human genetics 86 (2010): 650–652. doi:10.1016/j.ajhg.2009.12.019, info:cnr-pdr/source/autori:Fusco F.; D'Urso M.; Miano M.G.; Ursini M.V./titolo:The LCR at the IKBKG locus is prone to recombine/doi:10.1016%2Fj.ajhg.2009.12.019/rivista:American journal of human genetics/anno:2010/pagina_da:650/pagina_a:652/intervallo_pagine:650–652/volume:86
Publication Year :: 2010
Publisher :: Elsevier BV, 2010.
Abstract: To the Editor: We read with great interest the paper by Vandewalle et al.1 that appeared in the December 11, 2009, issue of AJHG. The manuscript reports on a 0.3 Mb recurrent but variable copy number gain in the Xq28 region that is found to be associated with mental retardation (MR). This paper is of special interest to us as scientists working in the field of Xq28-linked disease. However, we would like to make a few comments, which we feel would contribute to the message of the paper. The authors suggest that the effect of the copy number gain is most likely due to the increased expression of GDI1.