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

Madrigal, I., Alvarez-Mora, M. I., Karlberg, O., Rodriguez-Revenga, L., Elurbe, D. M., Rabionet, R., et al. (2014). Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. Journal of Clinical Pathology, 67(12), 1099-1103. doi:10.1136/jclinpath-2014-202537.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-780E-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-780F-F
Genre: Journal Article

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 Creators:
Madrigal, I., Author
Alvarez-Mora, M. I., Author
Karlberg, O., Author
Rodriguez-Revenga, L., Author
Elurbe, D. M., Author
Rabionet, R., Author
Mur, A., Author
Pie, J., Author
Ballesta, F., Author
Sauer, S.1, Author              
Syvanen, A. C., Author
Mila, M., Author
Affiliations:
1Nutrigenomics and Gene Regulation (Sascha Sauer), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479662              

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Free keywords: Adult DNA Mutational Analysis/*methods Exome Female Gene Expression Profiling/*methods Humans Intellectual Disability/*genetics Male Pedigree Syndrome Transcriptome
 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.

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Language(s): eng - English
 Dates: 2014-09-302014-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1136/jclinpath-2014-202537
ISSN: 1472-4146 (Electronic)0021-9746 (Linking)
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Title: Journal of Clinical Pathology
  Other : J. Clin. Pathol.
Source Genre: Journal
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Publ. Info: London : British Medical Association
Pages: - Volume / Issue: 67 (12) Sequence Number: - Start / End Page: 1099 - 1103 Identifier: ISSN: 0021-9746
CoNE: https://pure.mpg.de/cone/journals/resource/954927613921