Lazarte Julieta, Hegele Robert A
Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
NPJ Genom Med. 2021 Dec 3;6(1):102. doi: 10.1038/s41525-021-00266-w.
Rare variants in the gene encoding nuclear lamin A/C are causal for more than a dozen diverse mendelian disorders. Defining the functional consequences of variants has been challenging given the pleiotropy of gene functions and potential pathogenic mechanisms. It is essential to develop trustworthy, scalable and rapidly deployable in vitro assays of function to enable timely assessment of missense variants that are being uncovered by high throughout next-generation sequencing.
编码核纤层蛋白A/C的基因中的罕见变异是十几种不同孟德尔疾病的病因。鉴于基因功能的多效性和潜在的致病机制，确定这些变异的功能后果具有挑战性。开发可靠、可扩展且能快速部署的体外功能检测方法至关重要，以便能够及时评估通过高通量下一代测序发现的错义变异。
