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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Item Type:Article
Title:Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
Creators Name:Madrigal, I. and Alvarez-Mora, M.I. and Karlberg, O. and Rodríguez-Revenga, L. and Elurbe, D.M. and Rabionet, R. and Mur, A. and Pie, J. and Ballesta, F. and Sauer, S. and Syvänen, A.C. and Milà, M.
Abstract:Aims: The causes of intellectual disability, which affects 1%-3% of the general population, are highly heterogeneous and the genetic defect remains unknown in around 40% of patients. The application of next-generation sequencing is changing the nature of biomedical diagnosis. This technology has quickly become the method of choice for searching for pathogenic mutations in rare uncharacterised genetic diseases. Methods: Whole-exome sequencing was applied to a series of families affected with intellectual disability in order to identify variants underlying disease phenotypes. Results: We present data of three families in which we identified the disease-causing mutations and which benefited from receiving a clinical diagnosis: Cornelia de Lange, Cohen syndrome and Dent-2 disease. The genetic heterogeneity and the variability in clinical presentation of these disorders could explain why these patients are difficult to diagnose. Conclusions: The accessibility to next-generation sequencing allows clinicians to save much time and cost in identifying the aetiology of rare diseases. The presented cases are excellent examples that demonstrate the efficacy of next-generation sequencing in rare disease diagnosis.
Keywords:DNA Mutational Analysis, Exome, Gene Expression Profiling, Intellectual Disability, Pedigree, Syndrome, Transcriptome
Source:Journal of Clinical Pathology
ISSN:1472-4146
Publisher:BMJ Publishing Group (U.K.)
Volume:67
Number:12
Page Range:1099-1103
Date:December 2014
Official Publication:https://doi.org/10.1136/jclinpath-2014-202537
PubMed:View item in PubMed

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