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Case Reports
. 2018 Mar;97(1):137-143.

A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia

Yunzhu Qian  1 , Yingying Zhang, Bin Wei, Mengshu Zhang, Jianxin Yang, Cuihua Leng, Zili Ge, Xingshun Xu, Miao Sun
Affiliations
  • PMID: 29666333
Case Reports

A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia

Yunzhu Qian et al. J Genet. 2018 Mar.

Abstract

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.

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References

    1. Am J Hum Genet. 2014 Aug 7;95(2):173-82 - PubMed
    1. Clin Genet. 2011 Mar;79(3):254-63 - PubMed
    1. Am J Med Genet A. 2010 Sep;152A(9):2203-10 - PubMed
    1. Mol Syndromol. 2015 Jul;6(2):83-6 - PubMed
    1. J Craniofac Surg. 2013 Jan;24(1):126-9 - PubMed

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