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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2018, Número 2

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Rev Invest Clin 2018; 70 (2)


Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6

Monroy-Jaramillo N, Cerón A, León E, Rivas V, Ochoa-Morales A, Arteaga-Alcaraz MG, Nocedal-Rustrian FC, Gallegos C, Alonso-Vilatela ME, Corona T, Flores J

Idioma: Ingles.
Referencias bibliográficas: 21
Paginas: 68-75
Archivo PDF: 151.78 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-70.

  2. Soong BW, Liao YC, Tu PH, et al. A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. J Chin Med Assoc. 2013;76:319-24.

  3. Di Francesco JC, Novara F, Zuffardi O, et al. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. Neurol Sci. 2015;36: 323-30.

  4. Kavanagh D, Spitzer D, Kothari PH, et al. New roles for the major human 3'-5' exonuclease TREX1 in human disease. Cell Cycle. 2008;7:1718-25.

  5. Federico A, Di Donato I, Bianchi S, et al. Hereditary cerebral small vessel diseases: a review. J Neurol Sci. 2012;322:25-30.

  6. Lindahl T, Barnes DE, Yang YG, Robins P. Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease. Biochem Soc Trans. 2009; 37:535-8.

  7. Orebaugh CD, Fye JM, Harvey S, et al. The TREX1 C-terminal region controls cellular localization through ubiquitination. J Biol Chem. 2013;288:28881-92.

  8. Alonso ME, Yescas P, Rasmussen A, et al. Homozygosity in Huntington’s disease: new ethical dilemma caused by molecular diagnosis. Clin Genet. 2002;61:437-42.

  9. Skirton H, Goldsmith L, Jackson L, et al. Quality in genetic counselling for presymptomatic testing—clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet. 2013;21:256-60.

  10. Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139:2909-22.

  11. Hardy TA, Young S, Sy JS, et al. Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? J Neurol Neurosurg Psychiatry. 2017 Aug 9 [Epub ahead of print].

  12. Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology. 1988;95:649-59.

  13. Mateen FJ, Krecke K, Younge BR, et al. Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. Neurology. 2010;75:1211-3.

  14. Vodopivec I, Oakley DH, Perugino CA, et al. A 44-year-old man with eye, kidney, and brain dysfunction. Ann Neurol. 2016;79: 507-19.

  15. Schuh E, Ertl-Wagner B, Lohse P, et al. Multiple sclerosis-like lesions and Type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflamm. 2015;2:e55

  16. Stüve O, Oksenberg J. Multiple Sclerosis Overview. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. Gene Reviews®. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20301492 [Last updated on 2010 May 11]; [Last accessed on 2018 Jan 19].

  17. Wallner-Blazek M, Rovira A, Fillipp M, et al. Atypical idiopathic inflammatory demyelinating lesions: prognostic implications and relation to multiple sclerosis. J Neurol. 2013;260:2016-22.

  18. Ben-Nun A, Kaushansky N, Kawakami N, et al. From classic to spontaneous and humanized models of multiple sclerosis: impact on understanding pathogenesis and drug development. J Autoimmun. 2014;54:33-50.

  19. Poser S, Lüer W, Bruhn H, et al. Acute demyelinating disease. Classification and non-invasive diagnosis. Acta Neurol Scand. 1992;86:579-85.

  20. Hogan SL, Nachman PH, Wilkman AS, Jennette JC, Falk RJ. Prognostic markers in patients with antineutrophil cytoplasmic autoantibody- associated microscopic polyangiitis and glomerulonephritis. J Am Soc Nephrol. 1996;7:23-32.

  21. Kisla Ekinci RM, Balci S, Bisgin A, Altintas DU, Yilmaz M. A homozygote TREX1 mutation in two siblings with different phenotypes: chilblains and cerebral vasculitis. Eur J Med Genet. 2017; 60:690-4.




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