NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family
Fecha
2020Autor
Sánchez, Carolina [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]
Fonseca, Beatriz [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]
Rivera, Alejandra [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]
Latapiat, Verónica [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]
Gallardo, Andres
Roldan, Andres
Sandoval, Patricio
Manuel Matamala, Jose
Ubicación geográfica
Notas
HERRAMIENTAS
Resumen
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean CADASIL family with complete radiological and histological studies. Methods: The family tree was constructed from an autopsy-confirmed confirmed patient, and includes 3 generations. We performed clinical, pathologic, genetic, and radiologic examinations on members of a family with CADASIL. Results: In the second generation, findings compatible with CADASIL were identified in 6 individuals, all of whom had a missense mutation in exon 3 (c.268C>T) resulting in an arginine to cysteine amino acid substitution at position 90 (R90C). In the third generation, a missense mutation was detected in one of the 4 asymptomatic individuals. Conclusions: There are similarities in clinical presentation between this family and previously described Asian and European series with R90C mutations. Detecting genotypes with a gain or loss of cysteine residues opens the door to future gene transfection-based therapies.
URI
https://doi.org/10.1016/j.jstrokecerebrovasdis.2019.104530http://repositorio.umayor.cl/xmlui/handle/sibum/6483
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