Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018)

Translational Stroke Research - Tập 10 - Trang 458-459 - 2018
J. W. Rutten1, E. B. van den Akker2, S. A. J. Lesnik Oberstein1
1Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
2Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands

Tài liệu tham khảo

Masoli JAH, Pilling LC, Kuchel GA, Melzer D. Clinical outcomes of CADASIL-associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. Transl Stroke Res. 2018. https://doi.org/10.1007/s12975-018-0671-6. Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014;14(5):593–603. https://doi.org/10.1586/14737159.2014.922880. Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, et al. CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. J Neurosci Res. 2009;87(5):1162–7. https://doi.org/10.1002/jnr.21935. Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, et al. Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain. 2011;134(Pt 11):3384–97. https://doi.org/10.1093/brain/awr252. Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S. Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family. J Neurol Sci. 2016;367:239–43. https://doi.org/10.1016/j.jns.2016.05.061. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350(9090):1511–5. https://doi.org/10.1016/S0140-6736(97)08083-5. Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, et al. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant. Gened Med. 2018. https://doi.org/10.1038/s41436-018-0088-3. Puy L, De Guio F, Godin O, Duering M, Dichgans M, Chabriat H, et al. Cerebral microbleeds and the risk of incident ischemic stroke in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). Stroke. 2017;48(10):2699–703. https://doi.org/10.1161/STROKEAHA.117.017839. Mitt M, Kals M, Parn K, Gabriel SB, Lander ES, Palotie A, et al. Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. Eur J Hum Genet. 2017;25(7):869–76. https://doi.org/10.1038/ejhg.2017.51. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91. https://doi.org/10.1038/nature19057. Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, et al. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Ann Clin Transl Neurol. 2016;3(11):844–53. https://doi.org/10.1002/acn3.344.