Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Ming Ta Michael Lee, Anne 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 journalArticle

17 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)45-49
Number of pages5
JournalGenomic Medicine
Volume2
Issue number1-2
DOIs
StatePublished - Jan 2008
Externally publishedYes

Fingerprint

Cleidocranial Dysplasia
Exons
Mutation
Osteoblasts
Point Mutation
Genes
Real-Time Polymerase Chain Reaction
Tooth
Transcription Factors
Phenotype

Keywords

  • Cleidocranial dysplasia
  • Intragenic deletion
  • Mechanism
  • RUNX2

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Lee, M. T. M., Tsai, A., Chou, C. H., Sun, F. M., Huang, L. C., Yen, P., ... Tsai, F. J. (2008). Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. Genomic Medicine, 2(1-2), 45-49. https://doi.org/10.1007/s11568-008-9024-y

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. / Lee, Ming Ta Michael; Tsai, Anne; Chou, Ching Heng; Sun, Feng Mei; Huang, Li Chen; Yen, Pauline; Lin, Chyi Chyang; Liu, Chih Yang; Wu, Jer Yuarn; Chen, Yuan Tsong; Tsai, Fuu Jen.

In: Genomic Medicine, Vol. 2, No. 1-2, 01.2008, p. 45-49.

Research output: Contribution to journalArticle

Lee, MTM, Tsai, A, Chou, CH, Sun, FM, Huang, LC, Yen, P, Lin, CC, Liu, CY, Wu, JY, Chen, YT & Tsai, FJ 2008, 'Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia', Genomic Medicine, vol. 2, no. 1-2, pp. 45-49. https://doi.org/10.1007/s11568-008-9024-y
Lee, Ming Ta Michael ; Tsai, Anne ; Chou, Ching Heng ; Sun, Feng Mei ; Huang, Li Chen ; Yen, Pauline ; Lin, Chyi Chyang ; Liu, Chih Yang ; Wu, Jer Yuarn ; Chen, Yuan Tsong ; Tsai, Fuu Jen. / Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. In: Genomic Medicine. 2008 ; Vol. 2, No. 1-2. pp. 45-49.
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