Dinçsoy Bir Firdevs, Dinçkan Nuriye, Güven Yeliz, Baş Firdevs, Altunoğlu Umut, Kuvvetli Senem S, Poyrazoğlu Şükran, Toksoy Güven, Kayserili Hülya, Uyguner Z Oya
Department of Medical Genetics, Medical Faculty, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Diagnostic and Biomedical Sciences, Center for Craniofacial Research, University of Texas Health Science Center, Houston, TX, USA.
Eur J Med Genet. 2017 Mar;60(3):163-168. doi: 10.1016/j.ejmg.2016.12.007. Epub 2016 Dec 24.
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).
锁骨颅骨发育不全（CCD）是一种常染色体显性疾病，其特征为骨骼异常，如颅缝闭合延迟、锁骨发育不全或缺失、多种牙齿异常、身材矮小和骨质疏松。RUNX2编码在成骨细胞分化中起重要作用的Runt DNA结合域蛋白，是唯一已知的与该疾病相关的基因，在70%的病例中被确定为致病原因。我们的临床评估显示，身材矮小的发生率为28.6%，骨质疏松的发生率为57.1%，骨质减少的发生率为21.4%。在本研究中，RUNX2测序在11个家族中发现了9种不同变异，其中8种具有致病性，一种是新的大片段插入（c.1271_1272ins20），另一种是预测为良性的框内大片段缺失（c.241_258del）。
