Literature DB >> 28081892

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

Tom E J Theunissen1, Suzanne C E H Sallevelt2, Debby M E I Hellebrekers2, Bart de Koning2, Alexandra T M Hendrickx2, Bianca J C van den Bosch2, Rick Kamps2, Kees Schoonderwoerd3, Radek Szklarczyk2, Elvira N M Mulder-Den Hartog4, Irenaeus F M de Coo4, Hubert J M Smeets5.   

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.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  complex disease; genetic diagnosis; phenotypic characterization

Mesh：

Substances：

Year:  2017        PMID： 28081892     DOI： 10.1016/j.jpeds.2016.12.032

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

Review 1.  Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Authors:  Natasha T Strande; Sarah E Brnich; Tamara S Roman; Jonathan S Berg
Journal:  Genet Med       Date:  2018-07-10       Impact factor: 8.822

2.  Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Authors:  Martina Doubková; Jakub Trizuljak; Zuzana Vrzalová; Anna Hrazdirová; Ivona Blaháková; Lenka Radová; Šárka Pospíšilová; Michael Doubek
Journal:  BMC Pulm Med       Date:  2019-10-16       Impact factor: 3.317

3.  Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Authors:  Tom E J Theunissen; Minh Nguyen; Rick Kamps; Alexandra T Hendrickx; Suzanne C E H Sallevelt; Ralph W H Gottschalk; Chantal M Calis; Alphons P M Stassen; Bart de Koning; Elvira N M Mulder-Den Hartog; Kees Schoonderwoerd; Sabine A Fuchs; Yvonne Hilhorst-Hofstee; Marianne de Visser; Jo Vanoevelen; Radek Szklarczyk; Mike Gerards; Irenaeus F M de Coo; Debby M E I Hellebrekers; Hubert J M Smeets
Journal:  Front Genet       Date:  2018-10-12       Impact factor: 4.599

4.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Authors:  Caroline F Wright; Ben West; Marcus Tuke; Samuel E Jones; Kashyap Patel; Thomas W Laver; Robin N Beaumont; Jessica Tyrrell; Andrew R Wood; Timothy M Frayling; Andrew T Hattersley; Michael N Weedon
Journal:  Am J Hum Genet       Date:  2019-01-18       Impact factor: 11.025
  4 in total

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