SHOC2基因突变致Noonan综合征1例报告
发布时间：2018-11-10 07:20
【摘要】：目的探讨SHOC2基因突变导致Noonan综合征(NS)的临床表型及分子诊断。方法回顾分析1例NS患儿的临床资料及基因检测结果。结果患儿,男,8个月。自出生后即存在喂养、睡眠困难,易哭吵,生长缓慢发育落后。头围偏大,头发稀疏、细黄,前额宽大突出,鼻梁扁平,眼距略宽,双侧眼裂向外下略倾斜,无眼睑下垂。彩色多普勒超声心动图显示卵圆孔未闭,室间隔与左室稍肥厚。在患儿SHOC2基因中找到"新生突变(De novo)",杂合错义变异c.4AG,p.Ser 2 Gly,其父母此位点为正常基因型。经查阅相关文献资料发现,睡眠困难这一临床表现目前在SHOC 2基因突变类型NS患者中尚无类似报道。结论 SHOC 2基因突变所致NS,其临床表型跟国外报道基本一致。睡眠困难可能是SHOC 2基因突变型NS的一个新的表型谱。
[Abstract]:Objective to investigate the clinical phenotype and molecular diagnosis of Noonan syndrome (NS) caused by SHOC2 gene mutation. Methods the clinical data and gene test results of one case with NS were retrospectively analyzed. Results the children, male, 8 months. Since birth there are feeding, sleep difficulties, easy to cry noisy, slow growth behind. The head circumference is large, the hair is thin, thin yellow, forehead is wide and prominent, the nasal bridge is flat, the eye distance is slightly wide, the bilateral eye fissure is slightly inclined to the outside, no eyelid drooping. Color Doppler echocardiography showed that the foramen ovale was not closed and the ventricular septum and left ventricle were slightly hypertrophy. "newborn mutant (De novo)" was found in the SHOC2 gene of children, and the heterozygosity mutation c.4AGP. Ser2 Gly, was the parent's normal genotype. It was found that the clinical manifestation of sleep difficulty was not reported in NS patients with SHOC 2 gene mutation type. Conclusion the clinical phenotype of SHOC 2 gene mutation in NS, is consistent with that reported abroad. Sleep difficulty may be a new phenotype of SHOC 2 mutant NS.
【作者单位】： 上海中医药大学附属上海市第七人民医院;上海交通大学医学院附属上海儿童医学中心;
【分类号】：R725.9
[Abstract]:Objective to investigate the clinical phenotype and molecular diagnosis of Noonan syndrome (NS) caused by SHOC2 gene mutation. Methods the clinical data and gene test results of one case with NS were retrospectively analyzed. Results the children, male, 8 months. Since birth there are feeding, sleep difficulties, easy to cry noisy, slow growth behind. The head circumference is large, the hair is thin, thin yellow, forehead is wide and prominent, the nasal bridge is flat, the eye distance is slightly wide, the bilateral eye fissure is slightly inclined to the outside, no eyelid drooping. Color Doppler echocardiography showed that the foramen ovale was not closed and the ventricular septum and left ventricle were slightly hypertrophy. "newborn mutant (De novo)" was found in the SHOC2 gene of children, and the heterozygosity mutation c.4AGP. Ser2 Gly, was the parent's normal genotype. It was found that the clinical manifestation of sleep difficulty was not reported in NS patients with SHOC 2 gene mutation type. Conclusion the clinical phenotype of SHOC 2 gene mutation in NS, is consistent with that reported abroad. Sleep difficulty may be a new phenotype of SHOC 2 mutant NS.
【作者单位】： 上海中医药大学附属上海市第七人民医院;上海交通大学医学院附属上海儿童医学中心;
【分类号】：R725.9
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