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Identification of copy‐number variants in patients with overgrowth disorders.

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Title: Identification of copy‐number variants in patients with overgrowth disorders.
Authors: Parra, Alejandro, Tenorio‐Castano, Jair, Nevado, Julián, Cazalla, Mario, Miranda‐Alcaraz, Lucía, Gallego‐Zazo, Natalia, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Ballesta‐Martínez, María Juliana, Guillén‐Navarro, Encarna, Arroyo, Ignacio, Lotersztein, Vanesa, Cosentino, Viviana, González‐Meneses, Antonio, Galán, Enrique, Rosell, Jordi, Ramos, Feliciano, Plasencia, Antonio, Rosa, Alberto L.
Source: Clinical Genetics; Nov2024, Vol. 106 Issue 5, p614-624, 11p
Subject Terms: WHOLE genome sequencing, SCIENTIFIC literature, STANDARD deviations, RELATIVES, GENDER
Abstract: Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2–3 standard deviations above the mean for age, gender, and ethnic group. Several copy‐number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1‐qter, among many others. In this study, we have applied 850K SNP‐arrays to 112 patients and relatives with OGS from the Spanish OverGrowth Registry Initiative. We have identified CNVs associated with the disorder in nine individuals (8%). Subsequently, whole genome sequencing (WGS) analysis was performed in these nine samples in order to better understand these genomic imbalances. All the CNVs were detected by both techniques, settling that WGS is a useful tool for CNV detection. We have found six patients with genomic abnormalities associated with previously well‐established disorders and three patients with CNVs of unknown significance, which may be related to OGS, based on scientific literature. In this report, we describe these findings and comment on genes associated with OGS that are located within the CNV regions. [ABSTRACT FROM AUTHOR]
Copyright of Clinical Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Identification of copy‐number variants in patients with overgrowth disorders.
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  Data: <searchLink fieldCode="AR" term="%22Parra%2C+Alejandro%22">Parra, Alejandro</searchLink><br /><searchLink fieldCode="AR" term="%22Tenorio‐Castano%2C+Jair%22">Tenorio‐Castano, Jair</searchLink><br /><searchLink fieldCode="AR" term="%22Nevado%2C+Julián%22">Nevado, Julián</searchLink><br /><searchLink fieldCode="AR" term="%22Cazalla%2C+Mario%22">Cazalla, Mario</searchLink><br /><searchLink fieldCode="AR" term="%22Miranda‐Alcaraz%2C+Lucía%22">Miranda‐Alcaraz, Lucía</searchLink><br /><searchLink fieldCode="AR" term="%22Gallego‐Zazo%2C+Natalia%22">Gallego‐Zazo, Natalia</searchLink><br /><searchLink fieldCode="AR" term="%22Silván%2C+Cristina%22">Silván, Cristina</searchLink><br /><searchLink fieldCode="AR" term="%22Arias%2C+Pedro%22">Arias, Pedro</searchLink><br /><searchLink fieldCode="AR" term="%22Pozo‐Román%2C+Jesús%22">Pozo‐Román, Jesús</searchLink><br /><searchLink fieldCode="AR" term="%22Ballesta‐Martínez%2C+María+Juliana%22">Ballesta‐Martínez, María Juliana</searchLink><br /><searchLink fieldCode="AR" term="%22Guillén‐Navarro%2C+Encarna%22">Guillén‐Navarro, Encarna</searchLink><br /><searchLink fieldCode="AR" term="%22Arroyo%2C+Ignacio%22">Arroyo, Ignacio</searchLink><br /><searchLink fieldCode="AR" term="%22Lotersztein%2C+Vanesa%22">Lotersztein, Vanesa</searchLink><br /><searchLink fieldCode="AR" term="%22Cosentino%2C+Viviana%22">Cosentino, Viviana</searchLink><br /><searchLink fieldCode="AR" term="%22González‐Meneses%2C+Antonio%22">González‐Meneses, Antonio</searchLink><br /><searchLink fieldCode="AR" term="%22Galán%2C+Enrique%22">Galán, Enrique</searchLink><br /><searchLink fieldCode="AR" term="%22Rosell%2C+Jordi%22">Rosell, Jordi</searchLink><br /><searchLink fieldCode="AR" term="%22Ramos%2C+Feliciano%22">Ramos, Feliciano</searchLink><br /><searchLink fieldCode="AR" term="%22Plasencia%2C+Antonio%22">Plasencia, Antonio</searchLink><br /><searchLink fieldCode="AR" term="%22Rosa%2C+Alberto+L%2E%22">Rosa, Alberto L.</searchLink>
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  Data: Clinical Genetics; Nov2024, Vol. 106 Issue 5, p614-624, 11p
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  Data: <searchLink fieldCode="DE" term="%22WHOLE+genome+sequencing%22">WHOLE genome sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22SCIENTIFIC+literature%22">SCIENTIFIC literature</searchLink><br /><searchLink fieldCode="DE" term="%22STANDARD+deviations%22">STANDARD deviations</searchLink><br /><searchLink fieldCode="DE" term="%22RELATIVES%22">RELATIVES</searchLink><br /><searchLink fieldCode="DE" term="%22GENDER%22">GENDER</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2–3 standard deviations above the mean for age, gender, and ethnic group. Several copy‐number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1‐qter, among many others. In this study, we have applied 850K SNP‐arrays to 112 patients and relatives with OGS from the Spanish OverGrowth Registry Initiative. We have identified CNVs associated with the disorder in nine individuals (8%). Subsequently, whole genome sequencing (WGS) analysis was performed in these nine samples in order to better understand these genomic imbalances. All the CNVs were detected by both techniques, settling that WGS is a useful tool for CNV detection. We have found six patients with genomic abnormalities associated with previously well‐established disorders and three patients with CNVs of unknown significance, which may be related to OGS, based on scientific literature. In this report, we describe these findings and comment on genes associated with OGS that are located within the CNV regions. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: <i>Copyright of Clinical Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Text: English
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              Text: Nov2024
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