■Noonan综合征(NS)和Noonan样综合征伴毛发松弛(NS/LAH)是神经发育综合征,是由参与大鼠肉瘤/丝裂原活化蛋白激酶(RAS/MAPK)途径的基因中的种系突变引起的。这项回顾性研究的目的是描述NS和NS/LAH的常见和罕见表现。
■我们收集并分析了25例NS和NS/LAH患者的临床和遗传数据。
■患者的中位年龄为6.3岁(范围,1-13年),男女比例为18:7。总的来说,19例患者患有由PTPN11突变引起的NS。在六名患者中发现了另一个致病基因,包括两名SHOC2突变患者,一名KRAS突变患者,一名患有LZTR1突变的患者,一名BRAF突变患者,和一名PPP1CB突变患者。在100%的患者中检测到身材矮小。本研究概述了NS的临床特征,包括独特的面部特征,身材矮小,先天性心脏缺陷,和其他表现。值得注意的是,在两名SHOC2阳性患者中发现了系统性红斑狼疮(SLE)。一个病人有一个后尿道瓣膜,这在NS患者中非常罕见。
■我们的研究发现了一些以前与NS关系不良的临床特征,包括SLE。我们的结论是SHOC2相关的NS与SLE的特别高风险相关,这可能会对生活质量产生重大影响,后尿道瓣膜是一种新的表型。这些发现可能有助于增强对NS临床谱的理解。
UNASSIGNED: Noonan syndrome (NS) and Noonan-like syndrome with loose anagen hair (NS/LAH) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. The aim of this retrospective study was to describe common and rare manifestations of NS and NS/LAH.
UNASSIGNED: We collected and analyzed clinical and genetic data from 25 patients with NS and NS/LAH.
UNASSIGNED: The patients\' median age was 6.3 years (range, 1-13 years), and the male-to-female ratio was 18:7. In total, 19 patients had NS caused by a mutation in PTPN11. Another causative gene was found in six patients, including two patients with a SHOC2 mutation, one patient with a KRAS mutation, one patient with an LZTR1 mutation, one patient with a BRAF mutation, and one patient with a PPP1CB mutation. Short stature was detected in 100% of the patients. This study provides an overview of the clinical features of NS, including unique facial features, short stature, congenital heart defects, and other manifestations. Notably, systemic lupus erythematosus (SLE) was found in two SHOC2-positive patients. One patient had a posterior urethral valve, which is very rare in NS patients.
UNASSIGNED: Our study identified several clinical features that were previously poorly related to NS, including SLE. We concluded that SHOC2-related NS is associated with a particularly high risk of SLE, which may have a significant impact on quality of life, and a posterior urethral valve is a novel phenotype. These findings could be helpful in enhancing the understanding of the clinical spectrum of NS.