1q21.1远端微缺失/微重复综合征合并先天性心脏病4例临床及遗传学分析  

Clinical and Genetic Analysis of 4 Cases of 1q21.1 Distal Microdeletion/Microduplication Syndrome Complicated with Congenital Heart Disease

作　　者：何静 王静 蔺鹏武 贾春暘 朱韶华 郝胜菊[1] 冯暄[1] HE Jing;WANG Jing;LIN Peng-wu;JIA Chun-yang;ZHU Shao-hua;HAO Sheng-ju;FENG Xuan(Medical Genetics Center,Gansu Provincial Maternity and Child Care Hospital(Gansu Provincial Central Hospital),Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Lanzhou 730050,China)

机构地区：[1]甘肃省妇幼保健院(甘肃省中心医院)医学遗传中心,甘肃省出生缺陷与罕见病临床医学研究中心,兰州730050

出　　处：《国际生殖健康／计划生育杂志》2024年第6期462-466,共5页Journal of International Reproductive Health/Family Planning

基　　金：甘肃省科技计划项目(22YF7FA094,23YFFA0045);兰州市人才创新创业项目(2018-RC-95)。

摘　　要：目的:探讨染色体拷贝数变异测序(copy number variation sequencing,CNV-seq)诊断1q21.1远端微缺失/微重复综合征合并先天性心脏病(congenital heart disease,CHD)的临床应用价值,并对此类患者进行临床及遗传学分析。方法:回顾性分析4例就诊于甘肃省妇幼保健院,经CNV-seq诊断为1q21.1微缺失/微重复综合征合并CHD患儿的临床及遗传学特征。结果:4例1q21.1微缺失/微重复综合征合并CHD患儿染色体CNV重叠区域为chr1:g.146520000-147840000,包含心脏相关的基因有CAJ5、CAJ8、PPKAB2、CHD1L和BCL9等。1例1q21.1微重复患儿还表现为小下颌、舌后坠、上颌腭裂的多发畸形和泌尿系统的发育异常,3例1q21.1微缺失患儿中有2例表现出严重的生长发育迟缓(其中1例伴有严重的智力障碍、肌张力减低和小阴茎,1例特殊面容),1例患儿已行CHD手术,预后良好。结论:CHD合并发育迟缓和(或)特殊面容是1q21.1微缺失/微重复综合征低龄患儿的重要表型,此类表型患儿有必要做染色体CNV-seq检测,为进一步临床诊治提供理论依据。Objective:To analyze the clinical and genetic characteristics of lq21.1 distal microdeletion/microduplication syndrome combined with congenital heart disease(CHD)using chromosome copy number variation sequencing(CNV-seq).Methods:Retrospective analysis was conducted on the four pediatric patients diagnosed with 1q21.1 microdeletion/microduplication syndrome and CHD using CNV-seq at Gansu Provincial Maternity and Child Care Hospital.Results:The chromosomal CNV overlap region of 4 cases was identified as chrl:g.1465200000-147840000,the heart-related genes included CAJ5,CAJ8,PPKAB2,CHD1L,BCL9,etc.One child with microduplication displayed various concurrent anomalies including micromandible malformations,retrolingual fall,maxillary clefts as well as aberrant urinary system development.In three children with microdeletion,two out of three experienced significant growth retardation(one presenting severe intellectual impairment along with hypotonia and micropenis while another exhibited distinctive facial features),and one child underwent surgery for CHD during follow-up with a favorable prognosis.Conclusions:CHD in combination with developmental delay and/or distinctive facial features,represents a significant phenotype in young children affected by lq21.1 microdeletion/duplication syndrome.It is imperative to identify chromosomal CNV in these individuals to provide theoretical basis for subsequent clinical diagnosis and treatment.

关 键 词：DNA拷贝数变异 全基因组测序 染色体缺失 染色体重复 心脏缺损 先天性 

分 类 号：R725.9[医药卫生—儿科]