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| 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 |
| 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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