X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

I. Madrigal, L. Rodríguez-Revenga, Luis Armengol, Eva González, Benjamin Rodriguez, C. Badenas, A. Sánchez, Fracas Martínez, M. Guitart, I. Fernández, J. A. Arranz, MARIA ISABEL Tejada, Luis A. Pérez-Jurado, Xavier P. Estivill, M. Milà

Research output: Contribution to journalArticle

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Abstract

Background: Aproximately 5-10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion: This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

Original languageEnglish
Article number443
JournalBMC Genomics
Volume8
DOIs
Publication statusPublished - 29 Nov 2007
Externally publishedYes

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X-Linked Mental Retardation
X Chromosome
Chromosomes
Intellectual Disability
Mentally Ill Persons
Chromosomes, Human, X
Bacterial Artificial Chromosomes
Comparative Genomic Hybridization
Technology
Phenotype
Genes

ASJC Scopus subject areas

  • Biotechnology
  • Genetics

Cite this

Madrigal, I., Rodríguez-Revenga, L., Armengol, L., González, E., Rodriguez, B., Badenas, C., ... Milà, M. (2007). X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics, 8, [443]. https://doi.org/10.1186/1471-2164-8-443

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. / Madrigal, I.; Rodríguez-Revenga, L.; Armengol, Luis; González, Eva; Rodriguez, Benjamin; Badenas, C.; Sánchez, A.; Martínez, Fracas; Guitart, M.; Fernández, I.; Arranz, J. A.; Tejada, MARIA ISABEL; Pérez-Jurado, Luis A.; Estivill, Xavier P.; Milà, M.

In: BMC Genomics, Vol. 8, 443, 29.11.2007.

Research output: Contribution to journalArticle

Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, JA, Tejada, MARIAISABEL, Pérez-Jurado, LA, Estivill, XP & Milà, M 2007, 'X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation', BMC Genomics, vol. 8, 443. https://doi.org/10.1186/1471-2164-8-443
Madrigal, I. ; Rodríguez-Revenga, L. ; Armengol, Luis ; González, Eva ; Rodriguez, Benjamin ; Badenas, C. ; Sánchez, A. ; Martínez, Fracas ; Guitart, M. ; Fernández, I. ; Arranz, J. A. ; Tejada, MARIA ISABEL ; Pérez-Jurado, Luis A. ; Estivill, Xavier P. ; Milà, M. / X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. In: BMC Genomics. 2007 ; Vol. 8.
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AU - Rodríguez-Revenga, L.

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AU - González, Eva

AU - Rodriguez, Benjamin

AU - Badenas, C.

AU - Sánchez, A.

AU - Martínez, Fracas

AU - Guitart, M.

AU - Fernández, I.

AU - Arranz, J. A.

AU - Tejada, MARIA ISABEL

AU - Pérez-Jurado, Luis A.

AU - Estivill, Xavier P.

AU - Milà, M.

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N2 - Background: Aproximately 5-10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion: This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

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