SHOC2基因突變致Noonan綜合征1例報告
發(fā)布時間：2018-11-10 07:20
【摘要】：目的探討SHOC2基因突變導(dǎo)致Noonan綜合征(NS)的臨床表型及分子診斷。方法回顧分析1例NS患兒的臨床資料及基因檢測結(jié)果。結(jié)果患兒,男,8個月。自出生后即存在喂養(yǎng)、睡眠困難,易哭吵,生長緩慢發(fā)育落后。頭圍偏大,頭發(fā)稀疏、細(xì)黃,前額寬大突出,鼻梁扁平,眼距略寬,雙側(cè)眼裂向外下略傾斜,無眼瞼下垂。彩色多普勒超聲心動圖顯示卵圓孔未閉,室間隔與左室稍肥厚。在患兒SHOC2基因中找到"新生突變(De novo)",雜合錯義變異c.4AG,p.Ser 2 Gly,其父母此位點為正�；蛐�。經(jīng)查閱相關(guān)文獻(xiàn)資料發(fā)現(xiàn),睡眠困難這一臨床表現(xiàn)目前在SHOC 2基因突變類型NS患者中尚無類似報道。結(jié)論 SHOC 2基因突變所致NS,其臨床表型跟國外報道基本一致。睡眠困難可能是SHOC 2基因突變型NS的一個新的表型譜。
[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.
【作者單位】： 上海中醫(yī)藥大學(xué)附屬上海市第七人民醫(yī)院;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【分類號】：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.
【作者單位】： 上海中醫(yī)藥大學(xué)附屬上海市第七人民醫(yī)院;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【分類號】：R725.9
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