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. 2024 Nov;106(5):614-624.
doi: 10.1111/cge.14596. Epub 2024 Aug 1.

Identification of copy-number variants in patients with overgrowth disorders

Alejandro Parra  1   2   3 , Jair Tenorio-Castano  1   2   3 , Julián Nevado  1   2   3 , Mario Cazalla  1   2   3 , Lucía Miranda-Alcaraz  1   2   3 , Natalia Gallego-Zazo  1   2   3 , Cristina Silván  2 , Pedro Arias  1   2   3 , Jesús Pozo-Román  4   5 , María Juliana Ballesta-Martínez  6   7 , Encarna Guillén-Navarro  1   7 , Ignacio Arroyo  8 , Vanesa Lotersztein  9 , Viviana Cosentino  10 , Antonio González-Meneses  11 , Enrique Galán  12 , Jordi Rosell  13 , Feliciano Ramos  14 ; Spanish OverGrowth Registry Initiative  15 ; Pablo Lapunzina  1   2   3   15
Collaborators, Affiliations

Identification of copy-number variants in patients with overgrowth disorders

Alejandro Parra et al. Clin Genet. 2024 Nov.

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.

Keywords: SNP‐arrays; copy‐number variation (CNV); deletion; duplication; genomic medicine; overgrowth syndromes; whole genome sequencing (WGS).

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References

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