摘要
目的总结儿童非肌性肌球蛋白重链9相关疾病(MYH9-RD)2家系的临床特征及基因变异特点。方法回顾性分析2021年11月及2022年7月郑州大学第一附属医院确诊的2个家系MYH9-RD患者的一般情况、临床表现、基因变异和实验室检查结果,并以“nonmuscle myosin heavy chain 9 related disease”“MYH9”“children”以及“非肌性肌球蛋白重链9相关疾病”“儿童”为关键词分别检索Pubmed数据库、中国知网、万方数据库建库至2023年2月的相关文献,对MYH9-RD基因变异谱及临床资料分析总结。结果先证者1,男,11岁,因鼻衄就诊,先证者长姐、次姐仅表现为月经量过多,先证者母亲磕碰后皮肤黏膜易出现瘀斑,先证者舅舅有肾脏损伤,先证者外祖母及外曾祖母有白内障病史,共7例表型异常。高通量测序显示先证者1 MYH9基因存在c.279C>G(p.N93K)错义突变,家系验证分析显示该变异遗传自患儿母亲。先证者1及家系成员共4例患者诊断为MYH9-RD。先证者2,女,1岁,因发热、咳嗽就诊,患儿父亲为体检发现MYH9-RD。高通量测序显示先证者2 MYH9基因存在c.4270G>A(p.D1424N)错义突变,家系验证分析显示该变异遗传自患儿父亲。先证者2及其父亲共2例患者诊断为MYH9-RD。共检索到文献99篇(国内32篇、国外67篇),MYH9-RD病例共计149个家系、197例散发患者(包括本组2个家系)。临床资料完整的病例共101例(62例散发、39例家系),男56例、女45例,平均年龄6.9岁,主要临床表现为血小板减低、皮肤瘀点瘀斑、鼻衄。大多数患者确诊后未予特殊治疗。检索到MYH9基因c.279C>G突变致MYH9-RD的英文文献6篇,意大利报道的病例数最多(3例);MYH9基因c.4270G>A突变致MYH9-RD的文献11篇,中国报道的病例数最多(9例)。结论MYH9-RD家系内发病患者临床表现差异较大,MYH9基因c.279C>G及c.4270G>A突变是MYH9-RD的致病原因。
Objective To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases(MYH9-RD)in children.Methods The basic information,clinical features,gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively."Non-muscle myosin heavy chain 9 related disease""MYH9"and"children"were used as key words to search at Pubmed database,CNKI and Wanfang database up to February 2023.The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized.Results Proband 1(male,11 years old)sought medical attention due to epistaxis,the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding,the skin and mucous membrane of the their mother were prone to ecchymosis after bumping,the uncle of proband 1 had kidney damage,and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts.There were 7 cases of phenotypic abnormalities in this pedigree.High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G(p.N93K)missense variant,and family verification analysis showed that the variant was inherited from the mother.A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD.The proband 2(female,1 year old)sought medical attention duo to fever and cough,and the father′s physical examination revealed thrombocytopenia.There were 2 cases of phenotypic abnormalities in this pedigree.High-throughput sequencing showed that there was a c.4270G>A(p.D1424N)missense variant in the proband 2 MYH9 gene,and family verification analysis showed that the variant was inherited from the father.A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD.A total of 99 articles were retrieved,including 32 domestic literatures and 67 foreign literatures.The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patient
作者
毛舒婷
李白
王叨
刘姗姗
苏淑芳
魏林林
柴方园
刘莹
刘玉峰
Mao Shuting;Li Bai;Wang Dao;Liu Shanshan;Su Shufang;Wei Linlin;Chai Fangyuan;Liu Ying;Liu Yufeng(Department of Hematology and Oncology,Children′s Hospital,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2023年第9期833-838,共6页
Chinese Journal of Pediatrics
