机构：[1]Center of Stomatology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, People’s Republic of China[2]Institute for Fetology, The First Affiliated Hospital of Soochow University, Suzhou 215006, People’s Republic of China[3]Department of Neurology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, People’s Republic of China[4]Department of Stomatology, The First Affiliated Hospital of Soochow University, Suzhou 215006, People’s Republic of China
Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure of cranial sutures, and short stature; while his hands were normal. Sequencing analysis of the entire coding region of the RUNX2 gene revealed no pathogenic changes; however, copy-number analysis with the Affymetrix HD array found ~500 kb genomicmicrodeletion. Real-time quantitative PCR validated this microdeletion in the 1-4 exons of the RUNX2 gene. The junction point of the breaking DNA was located in the directly oriented AluSz6 and AluSx repetitive elements, indicating that this microdeletion might be generated through an Alu-Alu mediated mechanism. In addition, this microdeletion existed in 21.8% of the asymptomatic mother's peripheral blood cells, demonstrating that the mosaicism was not associated with CCD phenotypes. In summary, a pathogenic microdeletion in the RUNX2 gene located on chromosome 6 was responsible for CCD.
基金：
This work was supported by National Natural Science Foundation
of China (81570960), Ministry of Science and Technology
of China (2013CB945400), Suzhou Health and Family
Planning Commission (SYSD2015093), Advance Research Programmeof
the Second Affiliated Hospital of SoochowUniversity
(SDFEYBS1603), and thePreponderantClinic DisciplineGroup
Project Funding of the Second Affiliated Hospital of Soochow
University (XKQ2015010). We thank Dr Xiao-zhi Wang from
Gminix (Shanghai, China) for assistance with bioinformatic
analyses.
第一作者机构：[1]Center of Stomatology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, People’s Republic of China
共同第一作者：
通讯作者：
通讯机构：[2]Institute for Fetology, The First Affiliated Hospital of Soochow University, Suzhou 215006, People’s Republic of China[3]Department of Neurology, The Second Affiliated Hospital of Soochow University, Suzhou 215004, People’s Republic of China
推荐引用方式(GB/T 7714)：
YUNZHU QIAN,YINGYING ZHANG,BINWEI,et al.A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia.[J].Journal of genetics.2018,97(1):137-143.doi:10.1007/s12041-018-0891-2.
APA：
YUNZHU QIAN,YINGYING ZHANG,BINWEI,MENGSHU ZHANG,JIANXIN YANG...&MIAO SUN.(2018).A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia..Journal of genetics,97,(1)
MLA：
YUNZHU QIAN,et al."A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia.".Journal of genetics 97..1(2018):137-143
