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Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Gagunashvili, Andrey N; Ocaka, Louise; Kelberman, Daniel; Munot, Pinki; Bacchelli, Chiara; Beales, Philip L; Ganesan, Vijeya.
Afiliação
  • Gagunashvili AN; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ocaka L; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Kelberman D; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Munot P; 2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Bacchelli C; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Beales PL; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ganesan V; 2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Hum Genome Var ; 6: 35, 2019.
Article em En | MEDLINE | ID: mdl-31645973
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article