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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen, Tom E J; Sallevelt, Suzanne C E H; Hellebrekers, Debby M E I; de Koning, Bart; Hendrickx, Alexandra T M; van den Bosch, Bianca J C; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Mulder-Den Hartog, Elvira N M; de Coo, Irenaeus F M; Smeets, Hubert J M.
Affiliation
  • Theunissen TEJ; Department 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.
  • Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • van den Bosch BJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Centre (MC), Rotterdam, The Netherlands.
  • Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Mulder-Den Hartog ENM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
  • de Coo IFM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
  • Smeets HJM; Department 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. Electronic address: bert.smeets@maastrichtuni
J Pediatr ; 182: 371-374.e2, 2017 03.
Article in En | MEDLINE | ID: mdl-28081892
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Abnormalities / Sequence Analysis, DNA / Genetic Diseases, Inborn / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant Language: En Journal: J Pediatr Year: 2017 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Abnormalities / Sequence Analysis, DNA / Genetic Diseases, Inborn / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant Language: En Journal: J Pediatr Year: 2017 Type: Article Affiliation country: Netherlands