Marfan综合征家族中一个新的15q21.1微缺失的鉴定

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Genetics research Pub Date : 2022-04-05 DOI:10.1155/2022/3556302

R. Yang, Wu Zhang, Hua-jun Lu, Jinlong Liu, Yu Xia, S. Liao, Xiaohui Li, Xiaoshen Zhang, X. Fan, Chaojie Wang

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引用次数: 2

摘要

背景马凡综合征（MFS）是一种涉及多个系统的结缔组织疾病，胸主动脉瘤（TAA）是最常见的危及生命的表现。方法对TAA家系进行调查，从6个家系成员中提取外周静脉血。在对这些个体进行全外显子组测序（WES）和染色体微阵列分析（CMA）后，进行生物信息学和遗传分析。结果WES揭示了一个新颖的，小的，0.76 15q21.1中的Mb微缺失，与家族中的疾病表型共分离，并导致与MFS相关的原纤维蛋白1（FBN1）基因单倍缺失。这种小拷贝数变异株（CNV）已被CMA证实。结论我们的研究扩展了与MFS相关的致病性CNV的表型谱，从而为该家族的临床遗传诊断和未来的遗传咨询提供了便利。

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Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome

Background Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. Method A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and inheritance analyses were performed. Result WES revealed a novel, small, 0.76 Mb microdeletion in 15q21.1, which cosegregated with the disease phenotype in the family and led to the haploinsufficiency of the fibrillin 1 (FBN1) gene, which is associated with MFS. This small copy number variant (CNV) was confirmed by CMA. Conclusion Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.