Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10430123" target="_blank" >RIV/00216208:11110/21:10430123 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/21:00074734 RIV/00064203:_____/21:10430123 RIV/00064165:_____/21:10430123 RIV/00216208:11130/21:10430123 RIV/00216224:14110/21:00123211

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=98NNB0z8oG" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=98NNB0z8oG</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/jcm10163543" target="_blank" >10.3390/jcm10163543</a>

Result language

angličtina

Original language name

Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic

Original language description

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked detailed phenotype description, making the interpretation of the detected variant&apos;s pathogenicity difficult. Here, we describe detailed clinical characteristics of GLA variant carriers identified by a nationwide stroke screening program in the Czech Republic. A total of 23 individuals with 8 different GLA variants were included in the study. A comprehensive diagnostic workup was performed by a team of FD specialists. The investigation led to the suggestion of phenotype reclassification for the G325S mutation from late-onset to classical. A novel variant R30K was found and was classified as a variant of unknown significance (VUS). The typical manifestation in our FD patients was a stroke occurring in the posterior circulation with an accompanying pathological finding in the cerebrospinal fluid. Moreover, we confirmed that cornea verticillata is typically associated with classical variants. Our findings underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

Czech name

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Czech description

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Type

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

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

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

Name of the periodical

Journal of Clinical Medicine [online]

ISSN

2077-0383

e-ISSN

—

Volume of the periodical

10

Issue of the periodical within the volume

16

Country of publishing house

CH - SWITZERLAND

Number of pages

17

Pages from-to

3543

UT code for WoS article

000690449900001

EID of the result in the Scopus database

2-s2.0-85112153199