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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Daphne LehalleAnne-Laure Mosca-BoidronAmber BegtrupOdile Boute-BenejeanPerrine CharlesMegan T ChoAmanda ClarksonOrrin DevinskyYannis DuffourdLaurence Duplomb-JegoBénédicte GérardAurélia JacquettePaul KuentzAlice Masurel-PauletCarey McDougallSébastien MouttonHilde OliviéSoo-Mi ParkAnita RauchNicole RevencuJean-Baptiste RivièreKarol RubinIngrid SimonicDeborah J ShearsThomas SmolAna Lisa Taylor TavaresPaulien TerhalJulien ThevenonKoen Van GassenCatherine Vincent-DelormeMarjolein H WillemsenGolder N WilsonElaine ZackaiChristiane ZweierPatrick CallierChristel Thauvin-RobinetLaurence Faivre
Published in: Journal of medical genetics (2017)
We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a STAG1 deletion or point mutation. This first series reporting the phenotype ascribed to mutation in STAG1 highlights the importance of data sharing in the field of rare disorders.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • electronic health record
  • social media
  • health information
  • big data
  • adverse drug
  • healthcare
  • machine learning