作者
Amélie Pinard, Maximillian DJ Fiander, Alana C Cecchi, Andrea L Rideout, Mohamed Azouz, Stuart M Fraser, P Daniel McNeely, Simon Walling, Sarah C Novara, Anna CE Hurst, Dongchuan Guo, Sandhya Parkash, Michael J Bamshad, Deborah A Nickerson, Anthony M Vandersteen, Dianna M Milewicz
发表日期
2021/3/30
期刊
Neurology
卷号
96
期号
13
页码范围
e1783-e1791
出版商
Lippincott Williams & Wilkins
简介
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, and 1 case had narrowing of the inferior abdominal aorta.
Conclusions
These results indicate a novel syndrome associated with …
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A Pinard, MDJ Fiander, AC Cecchi, AL Rideout… - Neurology, 2021