06 December 2019

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

DOI : 10.1016/j.jstrokecerebrovasdis.2019.104530

DOWNLOAD
Carolina Sánchez, PhD.

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.

Participating Center Researchers

Advanced Genomics Laboratory

PhD in Biotechnology, Universidad Técnica Federico Santa María and Pontificia Universidad Católica de Valparaíso, Chile.


LEER MÁS
Edificio2

Contact

Corporate building, first underground - Campus Huechuraba - Camino La Pirámide 5750, Huechuraba
+56 2 2328 1323|cgbum@umayor.cl