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

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• dc.contributor.author Ilic, Nikola
• dc.contributor.author Maric, Nina
• dc.contributor.author Maver, Ales
• dc.contributor.author Armengol i Dulcet, Lluís
• dc.contributor.author Kravljanac, Ruzica
• dc.contributor.author Cirkovic, Jana
• dc.contributor.author Krstic, Jovana
• dc.contributor.author Radivojevic, Danijela
• dc.contributor.author Cirkovic, Sanja
• dc.contributor.author Ostojic, Slavica
• dc.contributor.author Krasic, Stasa
• dc.contributor.author Paripovic, Aleksandra
• dc.contributor.author Vukomanovic, Vladislav
• dc.contributor.author Peterlin, Borut
• dc.contributor.author Maric, Gorica
• dc.contributor.author Sarajlija, Adrijan
• dc.date.accessioned 2024-09-23T06:32:43Z
• dc.date.available 2024-09-23T06:32:43Z
• dc.date.issued 2024
• dc.description.abstract 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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Ilic N, Maric N, Maver A, Armengol L, Kravljanac R, Cirkovic J, et al. Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity? Genes (Basel). 2024 Jun 15;15(6):789. DOI: 10.3390/genes15060789
• dc.identifier.doi http://dx.doi.org/10.3390/genes15060789
• dc.identifier.issn 2073-4425
• dc.identifier.uri http://hdl.handle.net/10230/61196
• dc.language.iso eng
• dc.publisher MDPI
• dc.relation.ispartof Genes (Basel). 2024 Jun 15;15(6):789
• dc.rights © 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/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Developmental delay (DD)
• dc.subject.keyword Intellectual disability (ID)
• dc.subject.keyword Neural network analysis
• dc.subject.keyword Reverse phenotyping (RP)
• dc.subject.keyword Whole-exome sequencing (WES)
• dc.title Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability-An exception or a necessity?
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion