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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Author(s) -
Harel Tamar,
Posey Jennifer E.,
Graham Brett H.,
Walkiewicz Magdalena,
Yang Yaping,
Lalani Seema R.,
Belmont John W.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37230
Subject(s) - moyamoya disease , medicine , presentation (obstetrics) , exome sequencing , disease , mendelian inheritance , alagille syndrome , cerebrovascular disorder , genetics , radiology , biology , gene , mutation , cholestasis
Variants in RNF213 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 RNF213 , 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 RNF213 variant, suggests that specific variants in RNF213 may lead to a Mendelian form of disease rather than simply conferring susceptibility to multifactorial disease. © 2015 Wiley Periodicals, Inc.