1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13.
Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.
樱草综合征和 3q13.31 微缺失综合征是两种具有临床相关性的疾病，其特征为身材高大、大头畸形、智力障碍、行为紊乱和特殊的面部特征。前者还具有糖尿病、耳聋、进行性肌肉萎缩和异位钙化等特异性表现。我们报告称，位于 3q13.31 微缺失综合征关键区域内的 ZBTB20 错义突变是樱草综合征的致病原因。这一发现确立了这两种疾病之间的遗传联系，并阐明了 ZBTB20 失调对发育、生长和代谢的影响。
