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

被引：24

作者：

Chen, Fei ^{[1
]}

Yuan, Haiming ^{[2
]}

Wu, Wenyong ^{[3
]}

Chen, Shaoke ^{[1
]}

Yang, Qi ^{[1
]}

Wang, Jin ^{[1
]}

Zhang, Qiang ^{[1
]}

Gui, Baohen ^{[1
]}

Fan, Xin ^{[1
]}

Chen, Ruimin ^{[3
]}

Shen, Yiping ^{[1
,4
,5
,6
,7
]}

机构：

[1] Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning 530002, Peoples R China

[2] Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan, Peoples R China

[3] Fujian Med Univ, Teaching Hosp, Fuzhou Childrens Hosp Fujian Prov, Dept Endocrinol, Fuzhou 350005, Fujian, Peoples R China

[4] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai, Peoples R China

[5] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai, Peoples R China

[6] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[7] Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2019年 / 181卷 / 02期

基金：

中国国家自然科学基金;

关键词：

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

D O I：

10.1002/ajmg.c.31698

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：218 / 225

页数：8

共 36 条

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