SHOC2基因突变致Noonan综合征1例报告

Noonan syndrome caused by mutation of SHOC 2 gene: a case report

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.4A>G,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。

Objective To investigate the clinical phenotype and molecular diagnosis of Noonan syndrome(NS) caused by mutations in SHOC2 gene. Methods The clinical data and gene testing results of one child with NS were analyzed retrospectively. Results This is an 8-month-old infant. Since birth, the boy had feeding and sleeping difficulties, irritability, and growth retardation. The boy had large head circumference, sparse, thin and yellow hair, broad and prominent forehead, flat nose, slightly wide eye distance, and slightly bilateral eye fissure outward tilt, no eyelid ptosis. Echocardiography showed patent foramen ovale, ventricular septum and left ventricular hypertrophy. A novel mutation(De novo) was found in the SHOC2 gene, heterozygous missense mutation c.4 A>G, p.Ser2 Gly His parents were normal genotypes. According to the clinical characteristics, relevant literature was reviewed. The clinical manifestation of sleep difficulty has not been reported in the NS patients with SHOC 2 mutation. Conclusions This is the first domestic reported NS case with SHOC2 mutation. The phenotype is consistent with the foreign reports. Sleep difficulty may be a new phenotype of NS with SHOC2 mutation.