A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia.

ABSTRACT:

Background

Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.

Methods

Genomic DNA extracted from peripheral venous blood was taken from the proband, her parents and 3 siblings, and 150 normal controls. Analysis of their respective RUNX2 gene sequences was performed by PCR amplification and Sanger sequencing. Pathogenesis associated with RUNX2 mutations was investigated by performing bioinformatics, real-time PCR, western blot analysis, and subcellular localization studies.

Results

We identified 2 complex heterozygous mutations involving a c.398-399 in

SUBMITTER: Xu W 

PROVIDER: S-EPMC5297198 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature