Abstract |
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 Q-repeat 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.
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Authors | Masaki Mastushita, Hiroshi Kitoh, Asli Subasioglu, Fatma Kurt Colak, Munis Dundar, Kenichi Mishima, Yoshihiro Nishida, Naoki Ishiguro |
Journal | Molecular syndromology
(Mol Syndromol)
Vol. 6
Issue 1
Pg. 50-3
(Feb 2015)
ISSN: 1661-8769 [Print] Switzerland |
PMID | 25852448
(Publication Type: Journal Article)
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