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, Sana Aboulkacem, Rym Dabboubi, Manel Ayoub, Oussema Lamine, Mariem Othmani, Zied Aouni, Taieb Messaoud, 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":null,"pages":null},"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.
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.