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Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
Joint Authors
Vargas, José Eduardo
Mergener, Rafaella
Riegel, Mariluce
Galera, Marcial Francis
Moreira, Lília Maria Azevedo
Corrêa, Thiago
Leite, Júlio César Loguercio
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-12
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions.
In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades.
The cytogenetic and clinical patient profiles were evaluated.
We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8.
CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33.
Furthermore, the smallest region of overlapping (SRO) encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly.
Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms.
Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms.
Additionally, we identified 29 hub-bottlenecks (H-B) nodes with a major role in WHS.
American Psychological Association (APA)
Corrêa, Thiago& Mergener, Rafaella& Leite, Júlio César Loguercio& Galera, Marcial Francis& Moreira, Lília Maria Azevedo& Vargas, José Eduardo…[et al.]. 2018. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International،Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
Modern Language Association (MLA)
Corrêa, Thiago…[et al.]. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International No. 2018 (2018), pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
American Medical Association (AMA)
Corrêa, Thiago& Mergener, Rafaella& Leite, Júlio César Loguercio& Galera, Marcial Francis& Moreira, Lília Maria Azevedo& Vargas, José Eduardo…[et al.]. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1127303