Ontology highlight
ABSTRACT:
SUBMITTER: Rutten JW
PROVIDER: S-EPMC6752295 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Rutten Julie W JW Van Eijsden Bastian J BJ Duering Marco M Jouvent Eric E Opherk Christian C Pantoni Leonardo L Federico Antonio A Dichgans Martin M Markus Hugh S HS Chabriat Hugues H Lesnik Oberstein Saskia A J SAJ
Genetics in medicine : official journal of the American College of Medical Genetics 20180722 3
<h4>Purpose</h4>CADASIL is a small-vessel disease caused by a cysteine-altering pathogenic variant in one of the 34 epidermal growth factor-like repeat (EGFr) domains of the NOTCH3 protein. We recently found that pathogenic variant in EGFr domains 7-34 have an unexpectedly high frequency in the general population (1:300). We hypothesized that EGFr 7-34 pathogenic variant more frequently cause a much milder phenotype, thereby explaining an important part of CADASIL disease variability.<h4>Methods ...[more]