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., ...More

CLINICAL CASE REPORTS, vol.6, no.8, pp.1452-1456, 2018 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 8
  • Publication Date: 2018
  • Doi Number: 10.1002/ccr3.1603
  • Journal Name: CLINICAL CASE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.1452-1456
  • Keywords: ASXL1, Bohring-Opitz syndrome, intellectual disability, mutation prioritization, variants of unknown significance, GENE
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.