A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

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Mastushita M., Kitoh H., Subasioglu A., Colak F. K. , Dundar M. , Mishima K., ...More

MOLECULAR SYNDROMOLOGY, vol.6, no.1, pp.50-53, 2015 (Journal Indexed in ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1159/000370337
  • Page Numbers: pp.50-53


Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt- related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain (Q/A domain, 23Q/17A), a DNA- binding Runt domain and a proline/serine/threonine- rich domain. We report on a familial case of CCD with a novel mutation within the Q/A domain of the RUNX2 gene, which is an insertion in exon 1 (p. Q71_ E72insQQQQ) representing the Qrepeat variant (27Q/17A). Functional analysis of the 27Q variant revealed abolished transactivation capacity of the mutated RUNX2 protein. This is the first case report that demonstrated a glutamine repeat variant of the RUNX2 gene causes CCD. (C) 2015 S. Karger AG, Basel