A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

Overview

Journal Mol Syndromol

Date 2015 Apr 9

PMID 25852448

Citations 7

Authors

Masaki Mastushita

Hiroshi Kitoh

Asli Subasioglu

Fatma Kurt Colak

Munis Dundar

Kenichi Mishima

Yoshihiro Nishida

Naoki Ishiguro

Affiliations

Soon will be listed here.

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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