| REKOVA, Petra, Gabriela DOSTALOVA, David KEMLINK, Jaroslava SCHWABOVA PAULASOVA, Zora DUBSKA, Manuela VANECKOVA, Martin MASEK, Ondrej KODET, Helena POUPETOVA, Stella MAZUROVA, Aneta RAJDOVÁ, Eva VLČKOVÁ, Alena TABORIKOVA, Stepanka FAFEJTOVA, Miroslava NEVSIMALOVA, Ales LINHART a Ales TOMEK. Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. Journal of Clinical Medicine. Basel: MDPI, 2021, roč. 10, č. 16, s. 1-17. ISSN 2077-0383. Dostupné z: https://dx.doi.org/10.3390/jcm10163543. |
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@article{1808668,
author = {Rekova, Petra and Dostalova, Gabriela and Kemlink, David and Schwabova Paulasova, Jaroslava and Dubska, Zora and Vaneckova, Manuela and Masek, Martin and Kodet, Ondrej and Poupetova, Helena and Mazurova, Stella and Rajdová, Aneta and Vlčková, Eva and Taborikova, Alena and Fafejtova, Stepanka and Nevsimalova, Miroslava and Linhart, Ales and Tomek, Ales},
article_location = {Basel},
article_number = {16},
doi = {http://dx.doi.org/10.3390/jcm10163543},
keywords = {Fabry disease; GLA gene variants; phenotype; stroke; screening programs; data sharing},
language = {eng},
issn = {2077-0383},
journal = {Journal of Clinical Medicine},
title = {Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic},
url = {https://www.mdpi.com/2077-0383/10/16/3543},
volume = {10},
year = {2021}
}
TY - JOUR
ID - 1808668
AU - Rekova, Petra - Dostalova, Gabriela - Kemlink, David - Schwabova Paulasova, Jaroslava - Dubska, Zora - Vaneckova, Manuela - Masek, Martin - Kodet, Ondrej - Poupetova, Helena - Mazurova, Stella - Rajdová, Aneta - Vlčková, Eva - Taborikova, Alena - Fafejtova, Stepanka - Nevsimalova, Miroslava - Linhart, Ales - Tomek, Ales
PY - 2021
TI - Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic
JF - Journal of Clinical Medicine
VL - 10
IS - 16
SP - 1-17
EP - 1-17
PB - MDPI
SN - 20770383
KW - Fabry disease
KW - GLA gene variants
KW - phenotype
KW - stroke
KW - screening programs
KW - data sharing
UR - https://www.mdpi.com/2077-0383/10/16/3543
N2 - 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'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.
ER -
REKOVA, Petra, Gabriela DOSTALOVA, David KEMLINK, Jaroslava SCHWABOVA PAULASOVA, Zora DUBSKA, Manuela VANECKOVA, Martin MASEK, Ondrej KODET, Helena POUPETOVA, Stella MAZUROVA, Aneta RAJDOVÁ, Eva VLČKOVÁ, Alena TABORIKOVA, Stepanka FAFEJTOVA, Miroslava NEVSIMALOVA, Ales LINHART a Ales TOMEK. Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. \textit{Journal of Clinical Medicine}. Basel: MDPI, 2021, roč.~10, č.~16, s.~1-17. ISSN~2077-0383. Dostupné z: https://dx.doi.org/10.3390/jcm10163543.
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