Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

ABSTRACT:

Objective

To test the hypothesis that de novo genetic variants are responsible for moyamoya disease (MMD) in children with unaffected relatives, we performed exome sequencing of 28 affected children and their unaffected parents.

Methods

Exome sequencing was performed on 28 trios of affected patients with MMD and unaffected parents.

Results

We identified 3 novel rare de novo RNF213 variants, 1 in the RING domain and 2 in a highly conserved region distal to the RING domain (4,114-4,120). These de novo cases of MMD present at a young age with aggressive MMD and uniquely have additional occlusive vascular lesions, including renal artery stenosis. Two previously reported cases had de novo variants in the same limited region and presented young with aggressive MMD, a

SUBMITTER: Pinard A 

PROVIDER: S-EPMC8055312 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature