| Title : Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing - Theunissen_2017_J.Pediatr_182_371 |
| Author(s) : Theunissen TE , Sallevelt SC , Hellebrekers DM , de Koning B , Hendrickx AT , van den Bosch BJ , Kamps R , Schoonderwoerd K , Szklarczyk R , Mulder-Den Hartog EN , de Coo IF , Smeets HJ |
| Ref : J Pediatr , 182 :371 , 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. |
| PubMedSearch : Theunissen_2017_J.Pediatr_182_371 |
| PubMedID: 28081892 |
| Gene_locus related to this paper: human-SERAC1 |
| Mutation | S450dup_human-SERAC1 |
| Gene_locus | human-SERAC1 |
| Disease | MEGDEL syndrome |
Theunissen TE, Sallevelt SC, Hellebrekers DM, de Koning B, Hendrickx AT, van den Bosch BJ, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog EN, de Coo IF, Smeets HJ (2017)
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
J Pediatr
182 :371
Theunissen TE, Sallevelt SC, Hellebrekers DM, de Koning B, Hendrickx AT, van den Bosch BJ, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog EN, de Coo IF, Smeets HJ (2017)
J Pediatr
182 :371