High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
Abstract
We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation-dependent probe amplification) and whole-genome array-based comparative genome hybridisation. Causative abnormalities were present in 42.2% (19/45) of the samples, and 27.8% (10/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture.
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Published studies of the prevalence of submicroscopic chromosomal abnormalities in syndromic craniosynostosis have ranged widely, from 6.7% to 28%.
“Published studies of the prevalence of submicroscopic chromosomal abnormalities in syndromic craniosynostosis have ranged widely, from 6.7% 7 to 28% (ref.38).”
From Craniosynostosis (2011) · cites this paper as [38]
Cites
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
Jonathan Flint, C., Wilkie, A. O. M., Buckle, V. J., Winter, R. M., Holland, A. J., & McDermid, H. E. (1995) · Nature Genetics · doi:10.1038/ng0295-132 · Cited by 505 · see citing works
Rosenberg, C., Knijnenburg, J., Bakker, E., Vianna‐Morgante, A. M., Sloos, W. C. R., Otto, P. A., Kriek, M., Hansson, K. B. M., Krepischi, A. C. V., Fiegler, H., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.032268 · Cited by 236 · see citing works
Self-citationTelomeres: a diagnosis at the end of the chromosomes
Vries, L. B. A. D., Winter, R. M., Schinzel, A., & van Ravenswaaij‐Arts, C. M. A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.6.385 · Cited by 222 · see citing works
Froyen, G., Esch, H. V., Bauters, M., Hollanders, K., Frints, S. G. M., Vermeesch, J. R., Devriendt, K., Fryns, J., & Marynen, P. (2007) · Human Mutation · doi:10.1002/humu.20564 · Cited by 177 · see citing works
Self-citationGajęcka, M., Yu, W., Ballif, B. C., Glotzbach, C. D., Bailey, K. A., Shaw, C. A., Kashork, C. D., Heilstedt, H. A., Ansel, D. A., Theisen, A. P., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201302 · Cited by 148 · see citing works
Krepischi, A. C. V., Vianna‐Morgante, A. M., Jehee, F. S., Passos‐Bueno, M. R., Knijnenburg, J., Szuhai, K., Sloos, W. C. R., Mazzeu, J. F., Kok, F., Cheroki, C., et al. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095922 · Cited by 126 · see citing works
Self-citationClinical dividends from the molecular genetic diagnosis of craniosynostosis
Wilkie, A. O. M., Bochukova, E. G., Hansen, R. M. S., Taylor, I. B., Rannan‐Eliya, S. V., Byren, J. C., Wall, S. A., Ramos, L. M., Venâncio, M., Hurst, J. A., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31366 · Cited by 105 · see citing works
Lugtenberg, D., de Brouwer, A. P. M., Kleefstra, T., Oudakker, A. R., Frints, S. G. M., Schrander-Stumpel, C. T. R. M., Fryns, J. P., Jensen, L. R., Chelly, J., Moraine, C., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036178 · Cited by 98 · see citing works
Self-citationOsoegawa, K., Vessere, G. M., Utami, K. H., Mansilla, M. A., Johnson, M. K., Riley-Gillis, B. M., L’Heureux, J., Pfundt, R., Staaf, J., van der Vliet, W. A., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052191 · Cited by 97 · see citing works
Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
Wilkie, A. O. M., Bochukova, E. G., Hansen, R. M. S., Taylor, I. B., Rannan‐Eliya, S. V., Byren, J. C., Wall, S. A., Ramos, L. M., Venâncio, M., Hurst, J. A., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31905 · Cited by 87 · see citing works
Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., et al. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00438.x · Cited by 55 · see citing works
Self-citationJehee, F. S., Rosenberg, C., Krepischi, A. C. V., Kok, F., Knijnenburg, J., Froyen, G., Vianna‐Morgante, A. M., Opitz, J. M., & Passos‐Bueno, M. R. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30991 · Cited by 33 · see citing works
Self-citationPure subtelomeric microduplications as a cause of mental retardation
Ruiter, E. M., Koolen, D. A., Kleefstra, T., Nillesen, W. M., Pfundt, R., de Leeuw, N., Hamel, B., Brunner, H. G., Sistermans, E. A., & Vries, B. B. A. D. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00874.x · Cited by 31 · see citing works
Jehee, F. S., Bertola, D. R., Yelavarthi, K. K., Krepischi, A. C. V., Kim, C. A., Vianna‐Morgante, A. M., Vermeesch, J. R., & Passos‐Bueno, M. R. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31863 · Cited by 29 · see citing works
Self-citationCzakó, M., Riegel, M., Morava, É., Bajnóczky, K., & Kosztolányi, G. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30249 · Cited by 21 · see citing works
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Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.235 · Cited by 499 · see citing works
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3491 · Cited by 297 · see citing works
Mathijssen, I. M. J. (2015) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000002016 · Cited by 232 · see citing works
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Watson, C. T., Marquès‐Bonet, T., Sharp, A. J., & Mefford, H. C. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153408 · Cited by 185 · see citing works
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Agochukwu, N. B., Solomon, B. D., & Muenke, M. (2012) · Child s Nervous System · doi:10.1007/s00381-012-1756-2 · Cited by 83 · see citing works
Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., Rieder, M. J., Smyth, M. D., Speltz, M. L., Eichler, E. E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33557 · Cited by 78 · see citing works
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Lattanzi, W., Bukvić, N., Barba, M., Tamburrini, G., Bernardini, C., Michetti, F., & Rocco, C. D. (2012) · Child s Nervous System · doi:10.1007/s00381-012-1781-1 · Cited by 61 · see citing works
Mefford, H. C. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c175d2 · Cited by 45 · see citing works
Kini, U., Hurst, J. A., Byren, J. C., Wall, S. A., Johnson, D., & Wilkie, A. O. M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33435 · Cited by 36 · see citing works
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Fernández-Jaén, A., Fernández-Perrone, A. L., Fernández-Mayoralas, D. M., Calleja-Pérez, B., Sánchez-Hombre, M. D. C., Fernández, E. C., & López-Martín, S. (2014) · Child's Nervous System · doi:10.1007/s00381-014-2474-8 · Cited by 4 · see citing works
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Chen, H. (2017) · Springer eBooks · doi:10.1007/978-1-4939-2401-1_209 · Cited by 1 · see citing works
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Chen, H. (2016) · Springer eBooks · doi:10.1007/978-1-4614-6430-3_209-2 · Cited by 1 · see citing works
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- Authors
- Jehee, F. S., Krepischi-Santos, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., Alonso, L. G., D’Angelo, C. S., Mazzeu, J. F., Froyen, G., Lugtenberg, D., Vianna-Morgante, A. M., Rosenberg, C., & Passos-Bueno, M. R.
- Affiliations
- Universidade de São Paulo (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Universidade Federal de São Paulo (BR)
- KU Leuven (BE)
- Radboud University Medical Center (NL)
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2008-05-02
- Volume
- 45
- Issue
- 7
- Pages
- 447-450
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2133097247
- Cited by
- 41
- References
- 15
- Citations by year
- 2023: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 3 · 2015: 2 · 2014: 5 · 2012: 6
- FWCI
- 2.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
- UNIFESP Institutional Repository (Universidade Federal de São Paulo) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- syndromic craniosynostosis, multiplex ligation-dependent probe amplification, subtelomeric regions, chromosomal duplication, trisomy, metopic suture
- MeSH terms
- Chromosome Aberrations, Craniosynostoses, Humans, Karyotyping, Nucleic Acid Hybridization, Polymorphism, Genetic, Microsatellite Repeats, Chromosome Segregation
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