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血管异常综合遗传方法入门

A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.

作者信息

Borst Alexandra J, Nakano Taizo A, Blei Francine, Adams Denise M, Duis Jessica

机构信息

Vascular Anomalies Program, Monroe Carrell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, TN, United States.

Vascular Anomalies Center, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United States.

出版信息

Front Pediatr. 2020 Oct 19;8:579591. doi: 10.3389/fped.2020.579591. eCollection 2020.

Abstract

The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. Here we provide an organizational framework for phenotype/genotype correlation and subsequent development of a diagnostic and treatment roadmap. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team.

摘要

在过去几十年中,随着驱动血管异常形成和进展的关键分子途径及基因突变的发现,血管异常领域取得了巨大发展。了解这些途径对于血管异常的分类、患者护理以及新型治疗方法的开发至关重要。本综述的目的是提供对血管异常分类的基本理解及其潜在分子途径的知识。在此,我们提供了一个表型/基因型相关性的组织框架以及后续诊断和治疗路线图的制定。随着遗传学在血管异常诊断和治疗中的重要性日益增加,我们强调临床遗传学家作为全面多学科血管异常团队一部分的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aeb/7604490/32b88a15455b/fped-08-579591-g0001.jpg

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