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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.


ABSTRACT: 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.

SUBMITTER: Harel T 

PROVIDER: S-EPMC4639746 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Harel Tamar T   Posey Jennifer E JE   Graham Brett H BH   Walkiewicz Magdalena M   Yang Yaping Y   Lalani Seema R SR   Belmont John W JW  

American journal of medical genetics. Part A 20150721 11


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  ...[more]

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