Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. (21st July 2015)

• Record Type: Journal Article
• Authors: Harel, Tamar; Posey, Jennifer E.; Graham, Brett H.; Walkiewicz, Magdalena; Yang, Yaping; Lalani, Seema R.; Belmont, John W.
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2742
• Page End: 2747
• Publication Date: 2015-07-21
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37230
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37230-sec-0001" sec-type="section"> <p>Variants in <italic>RNF213</italic> lead to susceptibility to moyamoya disease, a rare cerebral angiopathy characterized by bilateral stenosis of the internal carotid arteries and development of a compensatory collateral network. We describe a 3‐month‐old female with seizures, arterial narrowing involving the internal carotid and intracranial arteries and inferior abdominal aorta, and persistently elevated transaminases. Whole exome sequencing demonstrated a novel de novo variant in <italic>RNF213</italic>, securing a molecular diagnosis and directing appropriate intervention. This report underscores the role of whole exome sequencing in cases for which a complex and atypical presentation may mask diagnosis. Furthermore, the early and severe presentation in our patient, in conjunction with a novel de novo <italic>RNF213</italic> variant, suggests that specific variants in <italic>RNF213</italic> may lead to a Mendelian form of disease rather than simply conferring susceptibility to multifactorial disease. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>