Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
2014 (English)In: Journal of Clinical Pathology, ISSN 0021-9746, E-ISSN 1472-4146, Vol. 67, no 12, 1099-1103 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2014. Vol. 67, no 12, 1099-1103 p.
Cell and Molecular Biology
IdentifiersURN: urn:nbn:se:uu:diva-239749DOI: 10.1136/jclinpath-2014-202537ISI: 000345281400015PubMedID: 25271213OAI: oai:DiVA.org:uu-239749DiVA: diva2:775290