Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, China.
Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20.
CCCTC-binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations. We reported three additional Chinese patients with de novo variants in CTCF. The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of the eyebrow that may help to define a potential recognizable neurodevelopmental disorder. We also reported the first CTCF patient treated with recombinant human growth hormone. Follow-up and more case studies will further our understanding to the clinical presentations of this novel disorder and the prognosis of patients with this disorder.
CCCTC 结合因子（CTCF）是一种重要的调节因子，参与了基因组的整体组织和基因表达调控。CTCF 基因突变与一种以智力障碍、喂养困难、发育迟缓及小头畸形为特征的新型疾病有关。目前已有 4 位患者被报道存在 CTCF 基因的新生突变。本研究报道了另外 3 例中国患者存在 CTCF 新生变异。这些新的证据为 CTCF 与新兴疾病之间的临床相关性提供了支持。我们描述了所有患者的一致表型，并揭示了其他临床特征，如牙齿发育迟缓或异常，以及独特的眉形，这些特征可能有助于确定一种潜在的可识别的神经发育障碍。我们还报道了首例接受重组人生长激素治疗的 CTCF 患者。进一步的随访和更多的病例研究将加深我们对这种新型疾病的临床表现和患者预后的理解。
