1例May-Hegglin异常的致病基因研究及家系调查  

The pathogenic gene and family investigation of a case of May-Hegglin anomaly

作　　者：张渊博[1] 张静[1] 钱菁菁[2] 朱融和[1] 孙媛媛[1] ZHANG Yuanbo;ZHANG Jing;QIAN Jingjing;ZHU Ronghe;SUN Yuanyuan(Department of Pediatrics,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China;Department of Laboratory Medicine,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州医科大学附属第一医院儿科,浙江温州325000 [2]温州医科大学附属第一医院检验科,浙江温州325000

出　　处：《中国优生与遗传杂志》2024年第3期550-554,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的 对1例疑诊May-Hegglin异常(MHA)的患儿进行致病基因分析及家系调查。方法 提取家系成员的外周血基因组DNA,采用全外显子组捕获高通量测序技术,对MHA致病基因非肌性肌球蛋白重链9基因(MYH9)进行测序,采用Sanger测序验证结果,并对致病基因进行家系分析。结果 本家系中MHA患者表现为典型的“血小板减少、巨大血小板、外周血白细胞Dohle样小体”三联征,无感音神经性耳聋、白内障和肾炎症状。先证者MYH9基因编码区存在c.5521G>A(p.Glu1841Lys)错义变异。家系样本验证结果显示,受检者父亲、奶奶样本中也检测到该变异,考虑该变异为致病变异。结论 MYH9基因c.5521G>A(p.Glu1841Lys)错义变异是该家系的遗传学病因。Objective This study was to analyze the pathogenic gene and family investigation in a suspected case of May-Hegglin anomaly(MHA).Methods Genomic DNA was extracted from the peripheral blood of family members,and the MHA-related pathogenic gene(non-muscular myosin heavy chain 9 gene,MYH9)was detected using whole exome capture high-throughput sequencing technology.Sanger sequencing was then used to verify the results and analyze the pathogenic genes of family members.Results All MHA patients in this family exhibited the typical triad of“thrombocytopenia,giant platelets and Döhle body”,without sensorineural hearing loss,cataract and nephritis.A missense variation of c.5521G>A(p.Glu1841Lys)was detected in the coding region of the MYH9 gene.Sanger sequencing of the proband family samples confirmed the presence of this mutation in the samples of the subject’s father and grandmother,indicating it to be a pathogenic mutation.Conclusion The missense variation of c.5521G>A(p.Glu1841Lys)in the MYH9 gene was identified as the genetic cause in this family.

关 键 词：MAY-HEGGLIN异常 MYH9基因 高通量捕获测序 Sanger测序 

分 类 号：R725.9[医药卫生—儿科]