DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.

ABSTRACT:

Importance

Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals.

Objective

To assess whether ultrarare de novo and rare, damaging transmitted variants with large effect sizes are associated with MMD risk.

Design, setting, and participants

A genetic association study was conducted using whole-exome sequencing case-parent MMD trios in a small discovery cohort collected over 3.5 years (2016-2019); data were analyzed in 2020. Medical records fr

SUBMITTER: Kundishora AJ 

PROVIDER: S-EPMC8204259 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature