The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

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Urreizti R., Gursoy S., Castilla-Vallmanya L., Cunill G., Rabionet R., Ercal D., ...Daha Fazla

CLINICAL CASE REPORTS, cilt.6, sa.8, ss.1452-1456, 2018 (ESCI, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 8
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1002/ccr3.1603
  • Dergi Adı: CLINICAL CASE REPORTS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.1452-1456
  • Anahtar Kelimeler: ASXL1, Bohring-Opitz syndrome, intellectual disability, mutation prioritization, variants of unknown significance
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Key Clinical Message In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutationpresent in 132 individuals in ExACas a very probable cause of the disease in a Bohring-Opitz syndrome patient.