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Article

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

Journal of clinical pathology - 1 Aug 2018

Chyra Kufova Zuzana, Sevcikova Tereza, Januska Jaroslav, Vojta Petr, Boday Arpad, Vanickova Pavla, Filipova Jana, Growkova Katerina, Jelinek Tomas, Hajduch Marian, Hajek Roman

Abstract excerpt

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...

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Identifiers

PMID: 29455155
DOI: 10.1136/jclinpath-2017-204978
PMCID: PMC6204976

Genes

APOA1
APOA2
APP
CST3
FGA
GSN
LYZ
PRNP
TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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