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.

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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
Citation
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