Tautología genética entre neurodesarrollo y neurodegeneración en una familia colombiana multigeneracional
DOI:
https://doi.org/10.17533/udea.iatreia.345537Keywords:
intellectual disability, neurodegeneration, dementia, myelomeningocele, cerebellar atrophy, cleft lip , Wnt signaling pathwayAbstract
En este estudio y desde la perspectiva genética, tautología hace referencia a que una enfermedad tenga un factor genético similar a una segunda, a una tercera, y así sucesivamente; debido a genes, redes génicas o fisiopatología compartida, lo cual puede conducir a que exista cosegregación de varias enfermedades en grandes genealogías. En una familia de Antioquia, cosegregan varias enfermedades de origen neurológico, lo cual podría deberse a que tengan un principio tautológico.
En este reporte, se exponen las características clínicas principales de los individuos afectados en la genealogía mencionada y se plantea desde lo revisado en la literatura y bases de datos, una red de genes candidatos posiblemente relacionados a las enfermedades implicadas.
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