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Artículo

The odyssey of complex neurogenetic disorders: From undetermined to positive

Salinas, Valeria Macarena; Vega, Patricia; Marsili, Luca; Perez Maturo, JosefinaIcon ; Martínez, Nerina; Zavala, LucíaIcon ; González Morón, DoloresIcon ; Medina, Nancy; Rodríguez Quiroga, Sergio Alejandro; Amartino, Hernán; Maxit, Clarisa; Sturchio, Andrea; Grimberg, Barbara; Duque, Kevin; Comas, Betiana; Silva, WalterIcon ; Consalvo, Damián; Sfaello, Ignacio; Espay, Alberto J.; Kauffman, Marcelo AndresIcon
Fecha de publicación: 12/2020
Editorial: Wiley-liss, div John Wiley & Sons Inc.
Revista: American Journal Of Medical Genetics Part C-seminars In Medical Genetics
ISSN: 1552-4868
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Neurología Clínica

Resumen

The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a ?diagnostic odyssey.? An increase in the variability of genetic disorders and the corresponding gene-disease associations suggest the need to periodically re-evaluate the significance of variants of undetermined pathogenicity. Here, we report the diagnostic and clinical utility of Targeted Gene Panel Sequencing (TGPS) and Whole Exome Sequencing (WES) in 341 patients with suspected neurogenetic disorders from centers in Buenos Aires and Cincinnati over the last 4 years, focusing on the usefulness of reinterpreting variants previously classified as of uncertain significance. After a mean of ±2years (IC 95:0.73?3.27), approximately 30% of the variants of uncertain significance were reclassified as pathogenic. The use of next generation sequencing methods has facilitated the identification of both germline and mosaic pathogenic variants, expanding the diagnostic yield. These results demonstrate the high clinical impact of periodic reanalysis of undetermined variants in clinical neurology.
Palabras clave: DIAGNOSTIC ODYSSEY , MOSAICISM , TARGETED GENE PANEL SEQUENCING , VARIANTS OF UNKNOWN SIGNIFICANCE , WHOLE EXOME SEQUENCING
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info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/163875
DOI: http://dx.doi.org/10.1002/ajmg.c.31848
Colecciones
Articulos(IIMT)
Articulos de INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Citación
Salinas, Valeria Macarena; Vega, Patricia; Marsili, Luca; Perez Maturo, Josefina; Martínez, Nerina; et al.; The odyssey of complex neurogenetic disorders: From undetermined to positive; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 184; 4; 12-2020; 876-884
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