未经证实:努南综合征(NS),一种称为放射病的常染色体显性疾病,是由丝裂原激活蛋白激酶途径基因的种系突变引起的。已发现RIT1基因突变导致NS。本研究总结了RIT1基因突变位点和相关的临床表型。
UNASSIGNED:我们回顾性分析我院1例RIT1突变引起NS的临床特点,并搜索了PubMed数据库,中国国家知识基础设施(CNKI)数据库和万方数据库,关键词为Noonan综合征和RIT1。检索了2014年5月1日至2021年7月1日之间发表的研究。通过回顾研究的摘要和全文,我们筛选了0-18岁儿童中与RIT1突变相关的NS病例。总结这些病例的临床特点。
未经评估:共分析41例,包括13个男孩和28个女孩。有14例早产病例。诊断时的年龄是4天到18岁,10例诊断为0-1岁。常见的氨基酸取代位置包括57(13/41),95(7/41)82(8/41),90(4/41)。共有63.63%的病例产前检查结果异常,主要表现为胎儿颈部水肿,羊水过多和心脏畸形。关于出生后的异常情况,70-80%的患者有典型的面部发育畸形,颈部和胸部;19/35例患者有淋巴发育异常;一部分患者有身材矮小和运动发育障碍。共有87.80%(36/41)的患者有心脏发育不良,其中肥厚型心肌病(HCM)占58.53%。共有84.62%的携带p.A57G突变的患者患有HCM,但在p.G95A突变患者中未发现HCM.总共34.15%的患者患有肺动脉或肺动脉瓣狭窄(PVS)。在p.M90I突变的患者中,75%有PVS。合并HCM和PVS的患者占室上性心动过速的19.51%和48.78%。
未经证实:引起NS的RIT1基因突变与产前检查结果异常率高有关。大多数患者有典型的NS颅面畸形,有些有身材矮小和运动发育障碍。心脏畸形率高,HCM很常见。一些患者有室上性心律失常。心脏异常表现出高度异质性,鉴于各种突变位点。
UNASSIGNED: Noonan syndrome (NS), an autosomal dominant disease known as a RASopathy, is caused by germline mutations in mitogen-activated protein kinase pathway genes. A RIT1 gene mutation has been found to cause NS. The present study summarizes RIT1 gene mutation sites and associated clinical phenotypes.
UNASSIGNED: We retrospectively analyzed the clinical characteristics of a case of NS caused by RIT1 mutation in our hospital, and searched the PubMed database, China National Knowledge Infrastructure (CNKI) database and Wanfang database with the keywords Noonan syndrome and RIT1. Studies published between May 1, 2014 and July 1, 2021 were retrieved. By reviewing the abstracts and full text of the studies, we screened NS cases associated with RIT1 mutation in children 0-18 years of age. The clinical characteristics of these cases were summarized.
UNASSIGNED: A total of 41 cases were analyzed, including 13 boys and 28 girls. There were 14 premature cases. The age at diagnosis was 4 days to 18 years, and 10 cases were diagnosed at 0-1 years of age. Common amino acid substitution positions included 57 (13/41), 95 (7/41), 82 (8/41), and 90 (4/41). A total of 63.63% cases had abnormal prenatal examination results, manifesting mainly as fetal neck edema, polyhydramnios and cardiac malformation. With respect to abnormal conditions after birth, 70-80% of patients had typical developmental malformations of the face, neck and thorax; 19/35 patients had abnormal lymphatic development; and a portion of patients had short stature and motor development disorders. A total of 87.80% (36/41) patients had cardiac dysplasia, among which hypertrophic cardiomyopathy (HCM) accounted for 58.53%. A total of 84.62% of patients carrying the p.A57G mutation had HCM, but no HCM was found in patients with the p.G95A mutation. A total of 34.15% of patients had pulmonary artery or pulmonary valve stenosis (PVS). In patients with the p.M90I mutation, 75% had PVS. Patients with concurrent HCM and PVS accounted for 19.51 and 48.78% of patients had supraventricular tachycardia.
UNASSIGNED: A RIT1 gene mutation causing NS was associated with a high rate of abnormal prenatal examination findings. Most patients had typical NS craniofacial deformities, and some have short stature and motor development disorders. The cardiac deformity rate was high, and HCM was common. Some patients had supraventricular arrhythmias. Heart abnormalities showed high heterogeneity, given the various mutation loci.