一名患有严重支气管肺发育不良和先天性心脏病的早产儿患索托斯综合征的病例。

Lu Dan-Fang, Tong Xiao-Mei, Liu Yun-Feng

Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

Children (Basel). 2023 Jun 26;10(7):1111. doi: 10.3390/children10071111.

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of Sotos syndrome in a preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. The gene mutation was located at 177251854 on chromosome 5, and identified as a shear mutation, c.4765+1 G > A, which is a new mutation. The patient recovered well after symptomatic treatment. To the best of our knowledge, this is the first case of a preterm infant in whom a novel c.4765+1 G > A mutation in the NSD1 gene was identified. When premature infants present with abnormally severe bronchopulmonary dysplasia, feeding difficulties, and other congenital anomalies, Sotos syndrome should be considered.

索托斯综合征是一种由NSD1基因突变引起的常染色体显性遗传病。在本研究中，我们报告了一例早产婴儿患索托斯综合征的病例。主要临床表现为严重支气管肺发育不良、先天性心脏病、喂养困难及特征性面容。基因突变位于5号染色体上的177251854处，鉴定为剪切突变，即c.4765+1 G > A，这是一种新的突变。经对症治疗后，该患者恢复良好。据我们所知，这是首例被鉴定出NSD1基因存在新型c.4765+1 G > A突变的早产婴儿病例。当早产儿出现异常严重的支气管肺发育不良、喂养困难及其他先天性异常时，应考虑索托斯综合征。