PDF(Pubmed)
Abstract：
Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.
摘要：
遗传性甲状腺素运载蛋白淀粉样变是一种严重的，成人发病常染色体显性遗传性系统性疾病主要影响外周和自主神经系统，心,肾,还有眼睛.我们介绍了一例65岁的高加索男性，患有心脏淀粉样变性和纯合突变Val142Ile（经典，Val122Ile）在转甲状腺素蛋白基因中。我们提供了关于杂合和纯合个体的遗传状态及其在遗传测试时的临床状况的基因型-表型相关性。
