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Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

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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.
Department of Endocrinology, Fuzhou Children's Hospital of Fujian Province, Fujian Medical University Teaching Hospital, Fuzhou, China.
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
Department of Neurology, Harvard Medical School, Boston, Massachusetts.


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.


CTCF; de novo mutation; growth retardation; intellectual disability; microcephaly


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