Language:

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of IRYR1/I-Related Myopathies

Genes, 2023-01, Vol.14 (2) [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes14020298

Full text available

Citations Cited by

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of IRYR1/I-Related Myopathies
Author: Dosi, Claudia ; Rubegni, Anna ; Baldacci, Jacopo ; Galatolo, Daniele ; Doccini, Stefano ; Astrea, Guja ; Berardinelli, Angela ; Bruno, Claudio ; Bruno, Giorgia ; Comi, Giacomo Pietro ; Donati, Maria Alice ; Dotti, Maria Teresa ; Filosto, Massimiliano ; Fiorillo, Chiara ; Giannini, Fabio ; Gigli, Gian Luigi ; Grandis, Marina ; Lopergolo, Diego ; Magri, Francesca ; Maioli, Maria Antonietta ; Malandrini, Alessandro ; Massa, Roberto ; Matà, Sabrina ; Melani, Federico ; Messina, Sonia ; Mignarri, Andrea ; Moggio, Maurizio ; Pennisi, Elena Maria ; Pegoraro, Elena ; Ricci, Giulia ; Sacchini, Michele ; Schenone, Angelo ; Sampaolo, Simone ; Sciacco, Monica ; Siciliano, Gabriele ; Tasca, Giorgio ; Tonin, Paola ; Tupler, Rossella ; Valente, Mariarosaria ; Volpi, Nila ; Cassandrini, Denise ; Santorelli, Filippo Maria
Subjects: Medical research ; Medicine, Experimental
Is Part Of: Genes, 2023-01, Vol.14 (2)
Description: Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype-phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in RYR1. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinically asymptomatic or pauci-symptomatic. Multimodal integration of clinical and histological data, performed using a non-metric multi-dimensional scaling analysis with k-means clustering, grouped the 64 patients into 4 clusters with distinctive patterns of clinical and morphological findings. In addressing the need for more specific genotype-phenotype correlations, we found clustering to overcome the limits of the "single-dimension" paradigm traditionally used to describe genotype-phenotype relationships.
Publisher: MDPI AG
Language: English
Identifier: ISSN: 2073-4425
EISSN: 2073-4425
DOI: 10.3390/genes14020298
Source: PubMed Central
ROAD: Directory of Open Access Scholarly Resources
ProQuest Central
DOAJ Directory of Open Access Journals

Back to results list


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of IRYR1/I-Related Myopathies

COPYRIGHT 2023 MDPI AG ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes14020298

Searching Remote Databases, Please Wait