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马凡综合征新发变异一例
引用本文:梁水美,刘丽丽,邱向东,刘金秀. 马凡综合征新发变异一例[J]. 中华医学遗传学杂志, 2021, 0(2): 162-165
作者姓名:梁水美  刘丽丽  邱向东  刘金秀
作者单位:济南银丰医学检验所;淄博市临淄区人民医院
摘    要:
目的:对1例不明原因生长发育过快及心脏畸形的患儿进行临床表型及遗传学病因分析。方法:对先证者进行全外显子测序分析,应用Sanger测序技术对全外显子筛出的可疑致病基因的变异位点进行验证,并利用生物信息学软件进行功能预测分析。结果:全外显子测序结果显示,先证者在 FBN1基因的第48外显子上存在c.5846_...

关 键 词:马凡综合征  FBN1基因  全外显子测序

A de novo mutation leading to Marfan syndrome in a case
Liang Shuimei,Liu Lili,Qiu Xiangdong,Liu Jinxiu. A de novo mutation leading to Marfan syndrome in a case[J]. Chinese journal of medical genetics, 2021, 0(2): 162-165
Authors:Liang Shuimei  Liu Lili  Qiu Xiangdong  Liu Jinxiu
Affiliation:(Jinan Yinfeng Medical Laboratory,Jinan,Shandong 250014,China;Linzi District People’s Hospital,Zibo,Shandong 255400,China)
Abstract:
Objective To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.Methods Whole exome sequencing(WES)was carried out for the patient.Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.Results The child was found to harbor a novel de novo c.5846_5848delATA(p.N1949del)variant in exon 48 of the FBN1 gene,which was predict to be pathogenic by Mutation Taster.The patient was ultimately diagnosed with Marfan syndrome.Conclusion Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome.WES has provided a powerful tool for the diagnosis of rare diseases.
Keywords:Marfan syndrome  FBN1 gene  Whole exome sequencing
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