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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F18%3AA1901W56" target="_blank" >RIV/61988987:17110/18:A1901W56 - isvavai.cz</a>

Alternative codes found

RIV/61989592:15110/18:73588054 RIV/00843989:_____/18:E0107154 RIV/00216224:14310/18:00111930

Result on the web

<a href="http://dx.doi.org/10.1136/jclinpath-2017-204978" target="_blank" >http://dx.doi.org/10.1136/jclinpath-2017-204978</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1136/jclinpath-2017-204978" target="_blank" >10.1136/jclinpath-2017-204978</a>

Result language

angličtina

Original language name

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

Original language description

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 followed by MiSeq Illumina sequencing and bioinformatics identification of germline variants using tool VarScan in a cohort of 40 patients.Results We present design of NGS panel for 11 genes (TTR, FGA, APOA1, APOA2, LYZ, GSN, CST3, PRNP, APP, 82M, ITM28) connected to various forms of amyloidosis. We detected one mutation, which is responsible for hereditary amyloidosis. Some other single nucleotide variants are so far undescribed or rare variants or represent common polymorphisms in European population.Conclusions We report one positive case of hereditary amyloidosis in a cohort of patients with hypertrophic cardiomyopathy of unknown significance and set up first panel for NGS in hereditary amyloidosis. This work may facilitate successful implementation of the NGS method by other researchers or clinicians and may improve the diagnostic process after validation

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30109 - Pathology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

JOURNAL OF CLINICAL PATHOLOGY

ISSN

0021-9746

e-ISSN

1472-4146

Volume of the periodical

71

Issue of the periodical within the volume

8

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

687-694

UT code for WoS article

000442467400005

EID of the result in the Scopus database

2-s2.0-85049215036