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- Title
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
- Authors
Yan, J; Zhang, F; Brundage, E; Scheuerle, A; Lanpher, B; Erickson, R P; Powis, Z; Robinson, H B; Trapane, P L; Stachiw-Hietpas, D; Keppler-Noreuil, K M; Lalani, S R; Sahoo, T; Chinault, A C; Patel, A; Cheung, S W; Lupski, J R
- Abstract
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), encoding components of the sister chromatid cohesion apparatus, are responsible for approximately 50-60% of CdLS cases. Recent studies have revealed a high degree of genomic rearrangements (for example, deletions and duplications) in the human genome, which result in gene copy number variations (CNVs). CNVs have been associated with a wide range of both Mendelian and complex traits including disease phenotypes such as Charcot-Marie-Tooth type 1A, Pelizaeus-Merzbacher, Parkinson, Alzheimer, autism and schizophrenia. Increased versus decreased copy number of the same gene can potentially cause either similar or different clinical features.
- Publication
Journal of medical genetics, 2009, Vol 46, Issue 9, p626
- ISSN
1468-6244
- Publication type
Research
- DOI
10.1136/jmg.2008.062471