Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES,...

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Autores: Ilic, Nikola, Maric, Nina, Maver, Ales, Armengol i Dulcet, Lluís, Kravljanac, Ruzica, Cirkovic, Jana, Krstic, Jovana, Radivojevic, Danijela, Cirkovic, Sanja, Ostojic, Slavica, Krasic, Stasa, Paripovic, Aleksandra, Vukomanovic, Vladislav, Peterlin, Borut, Maric, Gorica, Sarajlija, Adrijan
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/61196
Acceso en línea:http://hdl.handle.net/10230/61196
http://dx.doi.org/10.3390/genes15060789
Access Level:acceso abierto
Palabra clave:Developmental delay (DD)
Intellectual disability (ID)
Neural network analysis
Reverse phenotyping (RP)
Whole-exome sequencing (WES)
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spelling Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?Ilic, NikolaMaric, NinaMaver, AlesArmengol i Dulcet, LluísKravljanac, RuzicaCirkovic, JanaKrstic, JovanaRadivojevic, DanijelaCirkovic, SanjaOstojic, SlavicaKrasic, StasaParipovic, AleksandraVukomanovic, VladislavPeterlin, BorutMaric, GoricaSarajlija, AdrijanDevelopmental delay (DD)Intellectual disability (ID)Neural network analysisReverse phenotyping (RP)Whole-exome sequencing (WES)This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.MDPI202420242024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/61196http://dx.doi.org/10.3390/genes15060789reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésGenes (Basel). 2024 Jun 15;15(6):789© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/611962026-05-29T05:05:01Z
dc.title.none.fl_str_mv Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
title Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
spellingShingle Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
Ilic, Nikola
Developmental delay (DD)
Intellectual disability (ID)
Neural network analysis
Reverse phenotyping (RP)
Whole-exome sequencing (WES)
title_short Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
title_full Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
title_fullStr Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
title_full_unstemmed Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
title_sort Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
dc.creator.none.fl_str_mv Ilic, Nikola
Maric, Nina
Maver, Ales
Armengol i Dulcet, Lluís
Kravljanac, Ruzica
Cirkovic, Jana
Krstic, Jovana
Radivojevic, Danijela
Cirkovic, Sanja
Ostojic, Slavica
Krasic, Stasa
Paripovic, Aleksandra
Vukomanovic, Vladislav
Peterlin, Borut
Maric, Gorica
Sarajlija, Adrijan
author Ilic, Nikola
author_facet Ilic, Nikola
Maric, Nina
Maver, Ales
Armengol i Dulcet, Lluís
Kravljanac, Ruzica
Cirkovic, Jana
Krstic, Jovana
Radivojevic, Danijela
Cirkovic, Sanja
Ostojic, Slavica
Krasic, Stasa
Paripovic, Aleksandra
Vukomanovic, Vladislav
Peterlin, Borut
Maric, Gorica
Sarajlija, Adrijan
author_role author
author2 Maric, Nina
Maver, Ales
Armengol i Dulcet, Lluís
Kravljanac, Ruzica
Cirkovic, Jana
Krstic, Jovana
Radivojevic, Danijela
Cirkovic, Sanja
Ostojic, Slavica
Krasic, Stasa
Paripovic, Aleksandra
Vukomanovic, Vladislav
Peterlin, Borut
Maric, Gorica
Sarajlija, Adrijan
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Developmental delay (DD)
Intellectual disability (ID)
Neural network analysis
Reverse phenotyping (RP)
Whole-exome sequencing (WES)
topic Developmental delay (DD)
Intellectual disability (ID)
Neural network analysis
Reverse phenotyping (RP)
Whole-exome sequencing (WES)
description This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/61196
http://dx.doi.org/10.3390/genes15060789
url http://hdl.handle.net/10230/61196
http://dx.doi.org/10.3390/genes15060789
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genes (Basel). 2024 Jun 15;15(6):789
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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