SMARCAL1新发突变致Schimke免疫性骨发育不良1例  

A case of Schimke immune-osseous dysplasia caused by SMARCAL1 new mutation

作　　者：贾卉娟 刘艳 付中英 常久利[1] 杨燕玲[1] JIA Huijuan;LIU Yan;FU Zhongying;CHANG Jiuli;YANG Yanling(Heze Municipal Hospital,Heze,Shandong 274000,China)

机构地区：[1]菏泽市立医院,山东菏泽274000

出　　处：《中国优生与遗传杂志》2023年第2期383-386,共4页Chinese Journal of Birth Health & Heredity

摘　　要：1例以“眼睑水肿伴大量蛋白尿”为主诉的4岁7个月男童,伴反复呼吸道或消化道感染入院治疗,其生后因身材矮小及发育落后,于1岁5月时最终经基因检测确诊为Schimke免疫型骨发育不良(SIOD)。患儿SMARCAL1基因中2个新发突变位点,分别为:来源于患儿父亲的c.1777C>T(Gln593Ter)突变;来源于母亲的c.1860G>A(p.Trp620Ter)突变。通过对1例就诊于山东省菏泽市立医院儿科的患儿,其基因检测确诊为SIOD的病例分析,旨在提高临床医生对该病的认识,也为该病进一步提供临床及基因资料。A 4-year-old and 7-month-old boy with“eyelid edema with massive proteinuria”as the main complaint was hospitalized with repeated respiratory or digestive tract infections.He was finally diagnosed as Schimke immune-osseous dysplasia(SIOD)by genetic testing at the age of one year and 5 months after birth because of his short stature and backward development.There are two new mutation sites in SMARCAL1 gene of children:c.1777C>T(Gln593Ter)mutation from the father of children,The c.1860G>A(p.Trp620Ter)mutation from the mother,through the analysis of a case of a child who was admitted to the department of pediatrics of Heze Municipal Hospital in Shandong province and was confirmed as SIOD by gene testing,aims to improve the clinicians’understanding of the disease and further provide clinical and genetic data for the disease.

关 键 词：骨发育不良 SMARCAL1 新发突变 

分 类 号：R725.9[医药卫生—儿科]