NEW SETBP1 Study

by haley / On March 8, 2021Posted in Research

NEW STUDY – Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

Our findings contribute to further characterizing the associated phenotypes and suggest inclusion of SETBP1 in the list of prioritized genes for the genetic diagnosis of overlapping phenotypes ranging from non-specific neurodevelopmental disorders to “developmental and epileptic encephalopathy” (DEE).
A new SETBP1 study released December 2020 in Frontiers in Neurology identifies 3 individuals with SETBP1 differences and discusses the findings for 2 individuals with SETBP1 loss-of-function mutations who did not inherit the mutations from either parent. De novo means that the mutation is not inherited from either parent. Most SETBP1 differences/mutations are de novo. There is an additional individual with a SETBP1 missense mutation discussed in the publication who inherited the SETBP1 mutation from an unaffected mother, indicating the presence of mosaicism.

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