06 diciembre 2019

NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.

DOI : 10.1016/j.jstrokecerebrovasdis.2019.104530

Carolina Sánchez

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.

Investigadores Participantes del Centro

Advanced Genomics Laboratory

Doctora en Biotecnología, Universidad Técnica Federico Santa María y Pontificia Universidad Católica de Valparaíso, Chile.



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