Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Tom E. J. Theunissen, Suzanne C. E. H. Sallevelt, Debby M. E. I. Hellebrekers, Bart de Koning, Alexandra T. M. Hendrickx, Bianca J. C. van den Bosch, Rick Kamps, Kees Schoonderwoerd, Radek Szklarczyk, Elvira N. M. Mulder-Den Hartog, Irenaeus F. M. de Coo, Hubert J. M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Web of Science)

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.

Original languageEnglish
Pages (from-to)371-374
Number of pages4
JournalThe Journal of Pediatrics
Volume182
DOIs
Publication statusPublished - Mar 2017

Keywords

  • HERMANSKY-PUDLAK-SYNDROME
  • SPINAL MUSCULAR-ATROPHY
  • INBORN ERROR
  • MUTATIONS
  • GENE
  • AMINOACYLASE-1
  • DEFICIENCY
  • METABOLISM
  • BICD2

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