ABL1基因突变导致先天性心脏和骨骼畸形综合征的产前诊断1例并文献复习  

Prenatal diagnosis of congenital cardiac and skeletal malformation syndrome caused by ABL1 gene mutation:a case and literature review

作　　者：陈惠英[1] 范舒舒[1] 徐静[1] 郑兰香[1] 丁红珂[2] 汪成 李小红[1] 曾丹 苗淑红 江玫玫 Chen Huiying;Fan Shushu;Xu Jing;Zheng Lanxiang;Ding Hongke;Wang Cheng;Li Xiaohong;Zeng Dan;Miao Shuhong;Jiang Meimei(Prenatal Diagnosis Center,North Guangdong People’s Hospital,Shao Guan 512000,Guangdong,China;Medical Genetic Center,Guangdong Women and Children Hospital,Guangzhou 511442,Guangdong,China)

机构地区：[1]粤北人民医院产前诊断中心,广东韶关512000 [2]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2022年第2期59-62,67,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨先天性心脏和骨骼畸形综合征(congenital heart defects and skeletal malformations,CHDSM)的临床特征、基因产前诊断结果以及再生育指导。方法分析1例CHDSM先证者的临床特点,利用医学外显子进行家系分析。查阅中国知网、万方和PubMed数据库,比较分析国内外已报道CHDSM患者的临床特征及CHDSM基因突变位点。结果本病例超声检查提示:胎儿宫内生长受限、心脏异常(室间隔缺损、迷走右锁骨下动脉)、长骨短、双手小指中节指骨短小。羊水染色体核型、染色体微阵列结果未见异常,羊水医学外显子检测结果:发现ABL1基因新发杂合突变,与先天性心脏和骨骼畸形综合征相关。结论ABL1基因突变导致的先天性心脏和骨骼畸形综合征致残、致死率高、预后差,产前基因检查确诊有助于预后评估、干预,降低出生缺陷率,减轻家庭和社会负担。对于不明原因的心脏及骨骼发育异常,常规的染色体核型及基因芯片无异常,建议外显子检测进一步的基因诊断。对于明确携带基因变异或生育ABL1基因突变患儿的家庭应开展优生遗传咨询工作,对于再生育给予相应指导和建议。Objective To investigate the clinical characteristics,prenatal genetic diagnosis and reproductive guidance of congenital heart defects and skeletal malformations(CHDSM).Methods The clinical characteristics of a CHDSM proband were analyzed,and the medical exon was used for family analysis.The clinical characteristics and CHDSM gene mutation sites of CHDSM patients reported at home and abroad were compared and analyzed by consulting the databases of China CNKI,Wanfang and PubMed.Results The ultrasound examination of this case showed:fetal intrauterine growth restriction,abnormal heart(ventricular septal defect,vagal right subclavian artery),short long bone,short middle phalanx of little finger of both hands.No abnormality was found in amniotic fluid chromosome karyotype and chromosomal microarray(CMA).Results of amniotic fluid medical exon detection:a new heterozygous mutation of ABL1 gene was found,which was related to CHDSM.Conclusion CHDSM by ABL1 gene mutation has high disability,high mortality and poor prognosis.Prenatal genetic examination is helpful to prognosis evaluation and intervention,reduce the rate of birth defects and reduce the burden of family and society.For unexplained cardiac and skeletal abnormalities,if there is no abnormality in conventional chromosome karyotype and CMA.It is suggested that exon detection should be used for further gene diagnosis.Families that clearly carry genetic variation or give birth to children with ABLI gene mutation should carry out eugenic genetic counseling,and give corresponding guidance and suggestions for reproduction.

关 键 词：先天性心脏和骨骼畸形综合征 ABL1基因突变 外显子测序 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]