Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
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ABSTRACT:
SUBMITTER: Gagunashvili AN
PROVIDER: S-EPMC6804521 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya disease.
Gagunashvili Andrey N AN Ocaka Louise L Kelberman Daniel D Munot Pinki P Bacchelli Chiara C Beales Philip L PL Ganesan Vijeya V
Human genome variation 20190808
In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene <i>RNF213</i>, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as well as a previous report of a variant affecting the same amino acid residue in unrelated MMD patients, supports the role of <i>RNF213</i> in the pathogenesis of MMD. ...[more]
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