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Journal Article

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


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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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.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0025-780E-2
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.