Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

ABSTRACT:

Aim

To characterize clinical features and mutation spectrum in Chinese patients with CADASIL.

Methods

We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys, respectively.

Results

A total of 214 patients were finally genetically diagnosed as CADASIL, with 45 known NOTCH3 mutations and a novel c.1817G>T mutation. We found that patients carrying p.Arg607Cys or p.Arg544Cys mutation located in exon 11 occupied nearly 35% in our mutation spectrum. In retrospectively study of clinical data, we fou

SUBMITTER: Chen S 

PROVIDER: S-EPMC6492642 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature