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

doi:10.1016/j.jpeds.2016.12.032

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 journal › Article › Academic › peer-review

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 language	English
Pages (from-to)	371-374
Number of pages	4
Journal	The Journal of Pediatrics
Volume	182
DOIs	https://doi.org/10.1016/j.jpeds.2016.12.032
Publication status	Published - Mar 2017

Keywords

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

Access to Document

10.1016/j.jpeds.2016.12.032

Cite this

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M.-D., de Coo, I. F. M., & Smeets, H. J. M. (2017). Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. The Journal of Pediatrics, 182, 371-374. https://doi.org/10.1016/j.jpeds.2016.12.032

@article{3144404af6ef4995981535c8c2e6ecfb,

title = "Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing",

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.",

keywords = "HERMANSKY-PUDLAK-SYNDROME, SPINAL MUSCULAR-ATROPHY, INBORN ERROR, MUTATIONS, GENE, AMINOACYLASE-1, DEFICIENCY, METABOLISM, BICD2",

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

year = "2017",

month = mar,

doi = "10.1016/j.jpeds.2016.12.032",

language = "English",

volume = "182",

pages = "371--374",

journal = "The Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

}

Theunissen, TEJ, Sallevelt, SCEH, Hellebrekers, DMEI , de Koning, B, Hendrickx, ATM, van den Bosch, BJC , Kamps, R, Schoonderwoerd, K, Szklarczyk, R, Hartog, ENMM-D, de Coo, IFM & Smeets, HJM 2017, 'Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing', The Journal of Pediatrics, vol. 182, pp. 371-374. https://doi.org/10.1016/j.jpeds.2016.12.032

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 -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this