MAGEL2基因变异致新生儿Schaaf-Yang综合征一例  

Schaaf-Yang syndrome in a neonate caused by MAGEL2 gene mutation: a case report

作　　者：黄钟文 杨琳 吴冰冰[1] 王慧君[1] Huang Zhongwen;Yang Lin;Wu Bingbing;Wang Huijun(Molecular Genetic Diagnosis Center,Children's Hospital of Fudan University,Shanghai 201102,China;Department of Pediatric Endocrinology and Inherited Metabolic Disease,Children's Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院分子医学中心,上海201102 [2]复旦大学附属儿科医院内分泌遗传代谢科,上海201102

出　　处：《中华围产医学杂志》2021年第11期858-861,共4页Chinese Journal of Perinatal Medicine

摘　　要：本文报道了1例新生儿期发病的Schaaf-Yang综合征(Schaaf-Yang syndrome,SYS)病例。患儿,女,第2胎第2产,出生时缺氧窒息,生后持续严重呼吸困难,入院诊断为窒息、脑病、先天性心脏病、肺炎、败血症、黄疸、先天性喉软骨发育不全、声带麻痹。转入新生儿重症监护病房予呼吸支持、营养支持及抗感染治疗1个月,患儿家长要求出院。经随访,患儿于2月龄时因呼吸衰竭死亡。本例家系全外显子组测序结果提示,患儿MAGEL2基因存在c.1912C>T(p.Q638X)杂合无义致病变异,变异来源于父亲,母亲未见此变异。In this study,we reported a patient with neonatal-onset Schaaf-Yang syndrome(SYS).The girl was the second singleton child of a healthy,nonconsanguineous couple.She suffered from hypoxic asphyxia at birth and soon developed persistent respiratory distress.She was also diagnosed with neonatal encephalopathy,congenital heart disease,pneumonia,sepsis,neonatal jaundice,congenital laryngeal achondroplasia,and paralysis of vocal cord were diagnosed after admission.She spent the first one month of life in the neonatal intensive care unit and was treated with mechanical ventilation,nutritional support and anti-infectives.Then the baby was discharged as her parents'request and died of respiratory failure at the age of 2 months.Whole exome sequencing detected,a heterozygous nonsense mutation of c.1912C>T(p.Q638X)in MAGEL2 in the fetus,which was inherited from her father but not found in her mother.

关 键 词：呼吸功能不全 肌张力过低 智力障碍 神经发育障碍 蛋白质类 变异 全外显子组测序 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]