Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, The Netherlands.
Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008. Epub 2010 Feb 4.
The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated with a unique cellular phenotype in which features of Fanconi anemia (drug-induced chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist. The DDX11-deficient patient represents another cohesinopathy, besides Cornelia de Lange syndrome and Roberts syndrome, and shows that DDX11 functions at the interface between DNA repair and sister chromatid cohesion.
含铁硫的 DNA 解旋酶 XPD、FANCJ、DDX11 和 RTEL 代表了超级家族 2 解旋酶的一个小亚类。XPD 和 FANCJ 与遗传不稳定性综合征着色性干皮病和范可尼贫血有关。在这里，我们报告了一个人类个体，其 DDX11 存在双等位基因突变。有缺陷的 DDX11 与一种独特的细胞表型相关，该表型同时具有范可尼贫血（药物诱导的染色体断裂）和罗伯茨综合征（姐妹染色单体粘连缺陷）的特征。DDX11 缺陷的患者除了 Cornelia de Lange 综合征和 Roberts 综合征之外，代表了另一种黏连蛋白病，并表明 DDX11 在 DNA 修复和姐妹染色单体粘连之间的界面起作用。
