TY - JOUR
T1 - Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
AU - Theunissen, Tom E. J.
AU - Sallevelt, Suzanne C. E. H.
AU - Hellebrekers, Debby M. E. I.
AU - de Koning, Bart
AU - Hendrickx, Alexandra T. M.
AU - van den Bosch, Bianca J. C.
AU - Kamps, Rick
AU - Schoonderwoerd, Kees
AU - Szklarczyk, Radek
AU - Hartog, Elvira N. M. Mulder-Den
AU - de Coo, Irenaeus F. M.
AU - Smeets, Hubert J. M.
PY - 2017/3
Y1 - 2017/3
N2 - 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.
AB - 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.
KW - HERMANSKY-PUDLAK-SYNDROME
KW - SPINAL MUSCULAR-ATROPHY
KW - INBORN ERROR
KW - MUTATIONS
KW - GENE
KW - AMINOACYLASE-1
KW - DEFICIENCY
KW - METABOLISM
KW - BICD2
U2 - 10.1016/j.jpeds.2016.12.032
DO - 10.1016/j.jpeds.2016.12.032
M3 - Article
C2 - 28081892
SN - 0022-3476
VL - 182
SP - 371
EP - 374
JO - The Journal of Pediatrics
JF - The Journal of Pediatrics
ER -