摘要
目的提高医护人员对心-手综合征(Holt-Oram syndrome,HOS)的认识。方法报告1例以先天性心脏畸形并手指畸形为主要表现的HOS患者,进行全外显子基因检测,并进行文献复习。结果本例患者全外显子基因测序未发现临床表型高度相关的TBX5基因突变,但存在54项可疑变异,其中筛选出3项临床表型以心脏畸形、骨骼畸形、肢体异常为表现的基因(GPC3、STAG2和ZFPM2)突变。GPC3基因突变在NM_004484转录本中发现1号外显子116号碱基由G突变为T,导致39位氨基酸由精氨酸(R)转变为赖氨酸(L),即c.116G>T(p.R39L),搜索人类孟德尔遗传在线数据库(https://www.ncbi.nlm.nih.gov/omim/)及文献,目前该基因位点突变尚未见报道。结论本例患者检测出的与心脏缺陷伴骨骼畸形相关的基因(GPC3、STAG2和ZFPM2)突变,可为HOS患者的诊断和遗传咨询提供参考。
Objective To improve the understanding of medical staff on Holt-Oram syndrome(HOS).Methods A case of HOS with congenital heart malformation and finger malformation was reported.Whole exome sequencing was performed and the literature was reviewed.Results No TBX5 gene mutation with high clinical phenotype was found in this case.However,there were 54 suspicious mutations,among which 3 mutations(GPC3,STAG2 and ZFPM2)with clinical phenotypes of heart malformation,bone malformation and limb malformation were screened out.The mutation of GPC3 gene in NM_004484 transcript showed that base 116 of exon 1 mutated from G to T,resulting in the transformation of amino acid 39 from arginine(R)to lysine(L),i.e.,c.116 G>T(p.R39L).At present,the mutation of this gene has not been reported through searching Online Mendelian Inheritance in Man(https://www.ncbi.nlm.nih.gov/omim/).Conclusion The mutations of the genes(GPC3,STAG2 and ZFPM2)associated with cardiac defects and skeletal malformations detected in this case can provide reference for the diagnosis and genetic counseling in patients with HOS.
作者
张青青
刘如
徐鸥
ZHANG Qing-qing;LIU Ru;XU Ou(Fuwai Yunnan Cardiovascular Hospital、Kunming Medical University Affiliated Cardiovascular Hospital,Respiratory and Pulmonary Vascular Disease Ward,Kunming 650032,China;Fuwai Hospital,Chinese Academy of Medical Sciences,Coronary Heart Disease Center,Beijing 100037,China)
出处
《实用临床医学（江西）》
CAS
2023年第1期5-8,11,共5页
Practical Clinical Medicine
基金
云南省国家心血管病区域医疗中心重点项目(FZX2019-06-01)。
