Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
| Autor: | Daniel Kelberman, Andrey Gagunashvili, Vijeya Ganesan, Chiara Bacchelli, Philip L. Beales, Pinki Munot, Louise Ocaka |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
lcsh:QH426-470
Cosegregation lcsh:Life Susceptibility gene Biology Biochemistry Pathogenesis 03 medical and health sciences Genetics research Genetics medicine Data Report Missense mutation Moyamoya disease Amino acid residue Molecular Biology Stroke Gene 030304 developmental biology 0303 health sciences 030305 genetics & heredity medicine.disease lcsh:Genetics lcsh:QH501-531 |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019) |
| ISSN: | 2054-345X |
| Popis: | 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 RNF213, 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 RNF213 in the pathogenesis of MMD. |
| Databáze: | OpenAIRE |
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