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。

IF 0.4 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Annales de biologie clinique Pub Date : 2023-05-16 DOI:10.1684/abc.2023.1806
Yessine Amri, Sana Aboulkacem, Rym Dabboubi, Manel Ayoub, Oussema Lamine, Mariem Othmani, Zied Aouni, Taieb Messaoud, Chakib Mazigh
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引用次数: 0

摘要

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

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.

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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.
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