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

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50512

Sauer,  S.
Nutrigenomics and Gene Regulation (Sascha Sauer), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

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.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0025-780E-2
Zusammenfassung
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.