The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

Shusuke YagiRyosuke MiyamotoMasayoshi TasakiHiroyuki MorinoRyuji OtaniMuneyuki KadotaTakayuki IseHiroki YamazakiKenya KusunoseKoji YamaguchiHirotsugu YamadaTakeshi SoekiTetsuzo WakatsukiDaiju FukudaMitsuharu UedaMasataka Sata

Published in: Human genome variation (2024)

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.

Keyphrases

multiple myeloma
left ventricular
heart failure
copy number
gene expression
intellectual disability
early onset
drug induced