A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, OMIM #125310) is caused by mutations in NOTCH3, which encodes a transmembranous receptor. All CADASIL mutations reported to date localize in one of the 34 epidermal growth factor-like repeats (EGFrs) in NOTCH3, and most of them result in gain or loss of a cysteine residue [1]. The p.Arg544Cys (c.1630C  > T) mutation is atypical because the 544th amino acid localizes not in an EGFr but between the 13th and 14th EGFrs.

Source: Journal of the Neurological Sciences - August 29, 2018 Category: Neurology Authors: Mao Mukai, Ikuko Mizuta, Akihiko Ueda, Daisuke Nakashima, Yukie Kushimura, Yu-ichi Noto, Tomoyuki Ohara, Kyoko Itoh, Yukio Ando, Toshiki Mizuno Tags: Letter to the Editor Source Type: research