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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär medicin. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
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2014 (engelsk)Inngår i: Journal of Clinical Pathology, ISSN 0021-9746, E-ISSN 1472-4146, Vol. 67, nr 12, s. 1099-1103Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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.

sted, utgiver, år, opplag, sider
2014. Vol. 67, nr 12, s. 1099-1103
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URN: urn:nbn:se:uu:diva-239749DOI: 10.1136/jclinpath-2014-202537ISI: 000345281400015PubMedID: 25271213OAI: oai:DiVA.org:uu-239749DiVA, id: diva2:775290
Tilgjengelig fra: 2014-12-31 Laget: 2014-12-30 Sist oppdatert: 2018-01-11bibliografisk kontrollert

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