Lavezzi Anna Maria, Casale Valentina, Oneda Roberta, Gioventù Silvia, Matturri Luigi, Farronato Giampietro
Department of Biomedical, Surgical and Dental Sciences, "Lino Rossi" Research Center for the Study and Prevention of Unexpected Perinatal Death and SIDS, University of Milan, Via della Commenda, 19-20122, Milan, Italy,
Sleep Breath. 2013 Dec;17(4):1275-80. doi: 10.1007/s11325-013-0833-4. Epub 2013 Mar 28.
The aim of this study is to provide new molecular approaches to the children with obstructive sleep apnea syndrome by evaluating the possible involvement of the PHOX2B gene, notoriously associated to congenital central hypoventilation syndrome (CCHS), in Class III malocclusion.
Fifty subjects with Class III malocclusion, aged from 8 to 14 years, and with history of sleep apneic episodes, and 20 age-matched controls were submitted to genomic DNA examination from oral cells to specifically analyze the PHOX2B genotype.
Point "silent" mutations affecting different nucleotides of the PHOX2B gene were observed in 32 % of patients with Class III malocclusion and never in controls (0 %).
The genetic data obtained in this study in children with Class III malocclusion and sleep-related breathing disorders provide new information useful to the genetic characterization of this pathology. The PHOX2B gene silent mutations can lead to structural and functional modification of their product providing to a group of children with Class III malocclusion similar features to those of CCHS (sleep apnea episodes and craniofacial malformations).
本研究旨在通过评估与先天性中枢性低通气综合征（CCHS）密切相关的PHOX2B基因在Ⅲ类错牙合畸形中的可能作用，为患有阻塞性睡眠呼吸暂停综合征的儿童提供新的分子学研究方法。
选取50名年龄在8至14岁之间、有睡眠呼吸暂停发作史的Ⅲ类错牙合畸形患者以及20名年龄匹配的对照者，对其口腔细胞进行基因组DNA检测，以特异性分析PHOX2B基因的基因型。
在32%的Ⅲ类错牙合畸形患者中观察到影响PHOX2B基因不同核苷酸的“沉默”点突变，而在对照者中未观察到（0%）。
本研究在Ⅲ类错牙合畸形及睡眠相关呼吸障碍儿童中获得的遗传数据，为该病理特征的遗传研究提供了新的有用信息。PHOX2B基因的沉默突变可导致其产物的结构和功能改变，使一组Ⅲ类错牙合畸形儿童具有与CCHS相似的特征（睡眠呼吸暂停发作和颅面畸形）。
