Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Ming Ta Michael Lee, Anne Chun Hui Tsai, Ching Heng Chou, Feng Mei Sun, Li Chen Huang, Pauline Yen, Chyi Chyang Lin, Chih Yang Liu, Jer Yuarn Wu, Yuan Tsong Chen, Fuu Jen Tsai

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)45-49
Number of pages5
JournalGenomic Medicine
Issue number1-2
StatePublished - Jan 2008
Externally publishedYes


  • Cleidocranial dysplasia
  • Intragenic deletion
  • Mechanism
  • RUNX2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia'. Together they form a unique fingerprint.

Cite this