Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F18%3A00111930" target="_blank" >RIV/00216224:14310/18:00111930 - isvavai.cz</a>
Alternative codes found
RIV/61988987:17110/18:A1901W56 RIV/61989592:15110/18:73588054 RIV/00843989:_____/18:E0107154
Result on the web
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204976/pdf/jclinpath-2017-204978.pdf" target="_blank" >https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204976/pdf/jclinpath-2017-204978.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1136/jclinpath-2017-204978" target="_blank" >10.1136/jclinpath-2017-204978</a>
Alternative languages
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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
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