ASXL3基因突变致Bainbridge-Ropers综合征1例  

Case report of Bainbridge-Ropers syndrome caused by ASXL3 mutation

作　　者：乔凌燕 葛娟 刘玉圣[2] 李堂 Qiao Lingyan;Ge Juan;Liu Yusheng;Li Tang(Department of Pediatric Endocrinology and Genetic Metabolic Diseases,Qingdao Women and Children′s Hospital,Qingdao 266000,Shandong Province,China;Department of Pediatric Surgery,the Affiliated Hospital of Qingdao University,Qingdao 266000,Shandong Province,China)

机构地区：[1]青岛市妇女儿童医院内分泌代谢科,266000 [2]青岛大学附属医院小儿外科,266000

出　　处：《中华实用儿科临床杂志》2020年第23期1833-1834,共2页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对青岛市妇女儿童医院收治的1例Bainbridge-Ropers综合征患儿的临床资料进行回顾性分析。患儿,女,26 d,表现为体质量不增、睡眠多、轻度喂养困难、肌张力低下,全外显子测序发现ASXL3基因存在新发杂合无义突变(c.3464C>A),为致病突变,国内外尚未见报道。6月龄特殊面容明显,爪形手、双侧手腕向尺侧偏斜,随访发现精神运动发育落后。The clinical data of a child with Bainbridge-Ropers syndrome in Qingdao Women and Children′s Hospital was retrospectively analyzed.A 26-day old female presented with no weight gain,more sleep,mild feeding difficulty and low muscle tension.A novel nonsense mutation(c.3464c>A)was found in ASXL3 gene through whole exon sequencing,namely a pathogenic mutation,and has not been reported at home and abroad.At the age of 6 months,special facial features were obvious,with claw-shaped hands and bilateral wrists deviated to ulnar side.Follow-up revealed that psychomotor development is retarded.

关 键 词：Bainbridge-Ropers综合征 ASXL3 基因突变 

分 类 号：R725.9[医药卫生—儿科]