Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all symptoms, but manifestations were overlapping (blended phenotype). Two gene defects in the second patient explained nonoverlapping symptoms (composite phenotype). Whole-exome sequencing rapidly and comprehensively resolves heterogeneous genetic disease.
|Keywords||complex disease, genetic diagnosis, phenotypic characterization|
|Persistent URL||dx.doi.org/10.1016/j.jpeds.2016.12.032, hdl.handle.net/1765/98304|
|Journal||Journal of Pediatrics|
Theunissen, T.E.J. (Tom E.J.), Sallevelt, S.C.E.H, Hellebrekers, D.M.E.I, De Koning, B, Hendrickx, A, van den Bosch, B, … Smeets, H.J.M. (2017). Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. Journal of Pediatrics, 182, 371–374.e2. doi:10.1016/j.jpeds.2016.12.032