A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

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• 作者：Sung-Ju Hsueh ; Ni-Chung Lee ; Shu-Hua Yang ; Han-I Lin ; Chin-Hsien Lin
• 关键词：Cleidocranial dysplasia ; RUNX2 ; Myopathy ; Neurological system ; Case report
• 刊名：BMC Neurology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：17
• 期：1
• 全文大小：703KB
• 刊物主题：Neurology; Neurochemistry; Neurosurgery;
• 出版者：BioMed Central
• ISSN：1471-2377
• 卷排序：17

文摘

BackgroundCleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene.