Division of Newborn Medicine, Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts 02111, USA.
Am J Med Genet A. 2012 Jun;158A(6):1411-3. doi: 10.1002/ajmg.a.35318. Epub 2012 Apr 23.
We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 weeks and was noted to have dysmorphic features, edema, hepatosplenomegaly, leukocytosis, thrombocytopenia, and respiratory distress following birth. An echocardiogram revealed hypertrophic cardiomyopathy with left ventricular outflow tract obstruction. The infant's cardiac lesion rapidly progressed, and he was discharged home for palliative care. Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly. The patient's cardiac findings and features were not typical for those individuals previously reported with this SHOC2 mutation and thus expand the clinical phenotype.
我们报告了一例因 SHOC2 错义突变预测 p.Ser2Gly 导致的努南综合征患者，该突变最近被描述与努南综合征有关。这名男婴因胎儿窘迫需要早产，于 32 周时出生，出生后出现了畸形特征、水肿、肝脾肿大、白细胞增多、血小板减少和呼吸窘迫。超声心动图显示肥厚型心肌病伴左心室流出道梗阻。婴儿的心脏病变迅速进展，他出院回家接受姑息治疗。对导致努南综合征和相关疾病的基因进行临床检测，发现了先前报道的致病性、新生 SHOC2 错义突变，预测 p.Ser2Gly。该患者的心脏发现和特征与先前报道的具有这种 SHOC2 突变的个体并不典型，因此扩展了临床表型。
