Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
Tom E J Theunissen1, Suzanne C E H Sallevelt2, Debby M E I Hellebrekers2
1Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
The Journal of Pediatrics
|January 14, 2017
Abstract:
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.
