TY  - JOUR
AU  - Foddis, Marco
AU  - Blumenau, Sonja
AU  - Holtgrewe, Manuel
AU  - Paquette, Kimberly
AU  - Westra, Kaitlyn
AU  - Alonso, Isabel
AU  - Macario, Maria do Carmo
AU  - Morgadinho, Ana Sofia
AU  - Velon, Ana Graça
AU  - Santo, Gustavo
AU  - Santana, Isabel
AU  - Mönkäre, Saana
AU  - Kuuluvainen, Liina
AU  - Schleutker, Johanna
AU  - Pöyhönen, Minna
AU  - Myllykangas, Liisa
AU  - Pavlović, Aleksandra
AU  - Kostic, Vladimir
AU  - Dobricic, Valerija
AU  - Lohmann, Ebba
AU  - Hanagasi, Hasmet
AU  - Santos, Mariana
AU  - Guven, Gamze
AU  - Bilgic, Basar
AU  - Bras, Jose
AU  - Beule, Dieter
AU  - Dirnagl, Ulrich
AU  - Guerreiro, Rita
AU  - Sassi, Celeste
PY  - 2023
PY  - 2023
UR  - https://www.sciencedirect.com/science/article/pii/S0197458022002433
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5020
AB  - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral small vessel disease and share clinical, and, to different extents, neuroradiological and neuropathological features. However, whether CADASIL and RVCL-S overlapping phenotype may be explained by shared genetic risk or causative factors such as TREX1 coding variants remains poorly understood. To investigate this intriguing hypothesis, we used exome sequencing to screen TREX1 protein-coding variability in a large multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic CADASIL-like Caucasian patients from the USA, Portugal, Finland, Serbia and Turkey. We report 2 very rare and likely pathogenic TREX1 mutations: a loss of function mutation (p.Ala129fs) clustering in the catalytic domain, in an apparently sporadic 46-year-old patient from the USA and a missense mutation (p.Tyr305Cys) in the well conserved C-terminal region, in a 57-year-old patient with positive family history from Serbia. In concert with recent findings, our study expands the clinical spectrum of diseases associated with TREX1 mutations.
PB  - Elsevier
T2  - Neurobiology of Aging
T1  - TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
EP  - 215
SP  - 208
VL  - 123
DO  - 10.1016/j.neurobiolaging.2022.11.013
ER  - 

@article{
author = "Foddis, Marco and Blumenau, Sonja and Holtgrewe, Manuel and Paquette, Kimberly and Westra, Kaitlyn and Alonso, Isabel and Macario, Maria do Carmo and Morgadinho, Ana Sofia and Velon, Ana Graça and Santo, Gustavo and Santana, Isabel and Mönkäre, Saana and Kuuluvainen, Liina and Schleutker, Johanna and Pöyhönen, Minna and Myllykangas, Liisa and Pavlović, Aleksandra and Kostic, Vladimir and Dobricic, Valerija and Lohmann, Ebba and Hanagasi, Hasmet and Santos, Mariana and Guven, Gamze and Bilgic, Basar and Bras, Jose and Beule, Dieter and Dirnagl, Ulrich and Guerreiro, Rita and Sassi, Celeste",
year = "2023, 2023",
abstract = "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral small vessel disease and share clinical, and, to different extents, neuroradiological and neuropathological features. However, whether CADASIL and RVCL-S overlapping phenotype may be explained by shared genetic risk or causative factors such as TREX1 coding variants remains poorly understood. To investigate this intriguing hypothesis, we used exome sequencing to screen TREX1 protein-coding variability in a large multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic CADASIL-like Caucasian patients from the USA, Portugal, Finland, Serbia and Turkey. We report 2 very rare and likely pathogenic TREX1 mutations: a loss of function mutation (p.Ala129fs) clustering in the catalytic domain, in an apparently sporadic 46-year-old patient from the USA and a missense mutation (p.Tyr305Cys) in the well conserved C-terminal region, in a 57-year-old patient with positive family history from Serbia. In concert with recent findings, our study expands the clinical spectrum of diseases associated with TREX1 mutations.",
publisher = "Elsevier",
journal = "Neurobiology of Aging",
title = "TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients",
pages = "215-208",
volume = "123",
doi = "10.1016/j.neurobiolaging.2022.11.013"
}

Foddis, M., Blumenau, S., Holtgrewe, M., Paquette, K., Westra, K., Alonso, I., Macario, M. d. C., Morgadinho, A. S., Velon, A. G., Santo, G., Santana, I., Mönkäre, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Pavlović, A., Kostic, V., Dobricic, V., Lohmann, E., Hanagasi, H., Santos, M., Guven, G., Bilgic, B., Bras, J., Beule, D., Dirnagl, U., Guerreiro, R.,& Sassi, C.. (2023). TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients. in Neurobiology of Aging
Elsevier., 123, 208-215.
https://doi.org/10.1016/j.neurobiolaging.2022.11.013

Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, Macario MDC, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Pavlović A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Santos M, Guven G, Bilgic B, Bras J, Beule D, Dirnagl U, Guerreiro R, Sassi C. TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients. in Neurobiology of Aging. 2023;123:208-215.
doi:10.1016/j.neurobiolaging.2022.11.013 .

Foddis, Marco, Blumenau, Sonja, Holtgrewe, Manuel, Paquette, Kimberly, Westra, Kaitlyn, Alonso, Isabel, Macario, Maria do Carmo, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Pavlović, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Santos, Mariana, Guven, Gamze, Bilgic, Basar, Bras, Jose, Beule, Dieter, Dirnagl, Ulrich, Guerreiro, Rita, Sassi, Celeste, "TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients" in Neurobiology of Aging, 123 (2023):208-215,
https://doi.org/10.1016/j.neurobiolaging.2022.11.013 . .