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Pediatr Clin North Am. 2015 Aug;62(4):1037-53. doi: 10.1016/j.pcl.2015.04.012. Epub 2015 May 11.

Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

Author information

1
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK.
2
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK. Electronic address: sian.ellard@nhs.net.

Abstract

The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results guiding their clinical management. Exome and genome sequencing are powerful tools to identify novel genetic causes of known diseases. For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.

KEYWORDS:

Gene discovery; Genetic testing; Neonatal diabetes; Next-generation sequencing

PMID:
26210631
DOI:
10.1016/j.pcl.2015.04.012
[Indexed for MEDLINE]

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