Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

ABSTRACT:

Aims

Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease caused by germline mutations in 11 amyloidogenic precursor protein genes. One of the important but non-specific symptoms of amyloidosis is hypertrophic cardiomyopathy. Diagnostics of hereditary amyloidosis is complicated and the real cause can remain overlooked. We aimed to design hereditary amyloidosis gene panel and to introduce new next-generation sequencing (NGS) approach to investigate hereditary amyloidosis in a cohort of patients with hypertrophic cardiomyopathy of unknown significance.

Methods

Design of target enrichment DNA library preparation using Haloplex Custom Kit containing 11 amyloidogenic genes was f

SUBMITTER: Chyra Kufova Z 

PROVIDER: S-EPMC6204976 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature