Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.

IF 0.4 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
Yessine Amri, Sana Aboulkacem, Rym Dabboubi, Manel Ayoub, Oussema Lamine, Mariem Othmani, Zied Aouni, Taieb Messaoud, Chakib Mazigh
{"title":"Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.","authors":"Yessine Amri,&nbsp;Sana Aboulkacem,&nbsp;Rym Dabboubi,&nbsp;Manel Ayoub,&nbsp;Oussema Lamine,&nbsp;Mariem Othmani,&nbsp;Zied Aouni,&nbsp;Taieb Messaoud,&nbsp;Chakib Mazigh","doi":"10.1684/abc.2023.1806","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 2","pages":"204-209"},"PeriodicalIF":0.4000,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de biologie clinique","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1684/abc.2023.1806","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding.

先天性白蛋白血症与冠状动脉血栓形成的年轻成人的复合杂合新核苷酸变异相关。
先天性白蛋白血症(CAA)是一种非常罕见的遗传性疾病,其特征是人血清白蛋白显著减少甚至完全缺乏。我们的数据描述了一个病例的临床特征和实验室结果证实了突变分析的白蛋白基因在一个35岁的男子呈现复发性急性冠状动脉综合征。据我们所知,全世界只有两例冠状动脉疾病没有复发。我们的发现有助于阐明该疾病的临床特征和生化参数,并确认心血管并发症必须在该病理中得到重视。突变筛选揭示了位于内含子12和3'UTR的两个新的复合杂合核苷酸变异。使用不同的生物信息学工具预测所报道的变异的功能和结构影响表明,这些遗传变异影响RNA转录和mRNA折叠。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Annales de biologie clinique
Annales de biologie clinique 医学-医学:研究与实验
CiteScore
0.80
自引率
20.00%
发文量
53
审稿时长
6-12 weeks
期刊介绍: Multidisciplinary information with direct relevance to everyday practice Annales de Biologie Clinique, the official journal of the French Society of Clinical Biology (SFBC), supports biologists in areas including continuing education, laboratory accreditation and technique validation. With original articles, abstracts and accounts of everyday practice, the journal provides details of advances in knowledge, techniques and equipment, as well as a forum for discussion open to the entire community.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信