PDF(Pubmed)
Abstract：
We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.166C>T; p.Q56X) in its glutamine-alanine (Q/A) repeat domain. The genotypes of all published cases of CCD with normal clavicles were reviewed. Additional dental and otolaryngological features were enlisted. Three cases with a milder dental phenotype and normal clavicles were associated with a mutation in the Q/A domain. Collectively, we found a novel CCD-causing nonsense mutation p.Q56X in the Q/A domain of the RUNX2 gene.
摘要：
我们报告了一种不寻常的特征组合，包括延迟的牙齿萌出和前font骨的闭合，这是患有颅骨发育不良（CCD）的儿童的唯一特征。放射学调查显示头骨中存在虫骨，双侧第二掌骨基部的假骨骨，在锁骨基本正常的情况下，耻骨联合的中线骨化缺损。RUNX2基因的DNA测序在其谷氨酰胺-丙氨酸(Q/A)重复结构域的外显子1(c.166C>T;p.Q56X)中检测到新的无义突变。回顾了所有已发表的锁骨正常CCD病例的基因型。列出了其他牙齿和耳鼻喉科特征。3例牙齿表型较轻，锁骨正常，与Q/A结构域突变相关。总的来说，我们在RUNX2基因的Q/A域中发现了一个新的引起CCD的无义突变p.Q56X。
