Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis:A case report

作     者：Pan Fu Yang-Yang Jiao Kai Chen Jing-Bo Shao Xue-Lian Liao Jing-Wei Yang Sha-Yi Jiang 

作者机构：Department of Hematology and OncologyShanghai Children’s HospitalShanghai Jiao Tong UniversityShanghai 200062China Department of Hematology and OncologyShanghai Children’s HospitalShanghai Jiao Tong UniversityShanghai 200040China 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2022年第10卷第15期

页      面：4923-4928页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by the Natural Science Foundation of Shanghai Science Committee,No.18ZR1431200 Research Foundation of Shanghai Municipal Health Commission,No.20194Y0112 Clinical Research Plan of SHDC,No.SHDC2020CR4089 

主　　题：Hereditary spherocytosis ANK1 mutation Next-generation sequencing Case report Nonsense mutation 

摘      要：BACKGROUND Hereditary spherocytosis(HS)is characterized by anemia,jaundice,splenomegaly,and cholelithiasis,and is caused by abnormal genes encoding red blood cell membrane *** most common mutations found in HS are in the ANK1 *** SUMMARY A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 *** presented with jaundice,anemia and splenomegaly.A heterozygous mutation of ANK1(exon23:c.G2467T:p.E823X)was identified,and the mutation was determined to be autosomal *** mutation is linked to the relatively serious anemia she had after birth;this anemia improved with *** The utilization of next-generation sequencing may assist with the accurate diagnosis of HS,especially in atypical cases.