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Genomic Med. 2008 Jan;2(1-2):45-9. doi: 10.1007/s11568-008-9024-y. Epub 2008 Aug 12.

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia.

Author information

1
Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, mikelee@ibms.sinica.edu.tw.

Abstract

Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering "deletion" and "duplication" in suspected familial cases before extensive effort of gene hunting be carried.

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