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Mol Genet Metab. 2011 Sep-Oct;104(1-2):189-91. doi: 10.1016/j.ymgme.2011.06.022. Epub 2011 Jul 5.

Personalized genomic medicine: lessons from the exome.

Author information

1
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. solomonb@mail.nih.gov

Abstract

While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed whole-exome sequencing on a child with VACTERL association who suffered severe post-surgical neonatal pulmonary hypertension, and identified a potential novel genetic risk factor for this complication: a heterozygous mutation in CPSI. Newborn screening results from this patient's monozygotic twin provided evidence that this mutation, in combination with an environmental trigger (in this case, surgery), may have resulted in pulmonary artery hypertension due to inadequate nitric oxide production. Identification of this genetic risk factor allows for targeted medical preventative measures in this patient as well as relatives with the same mutation, and illustrates the power of incidental medical information unearthed by whole-exome sequencing.

PMID:
21767969
PMCID:
PMC3171610
DOI:
10.1016/j.ymgme.2011.06.022
[Indexed for MEDLINE]
Free PMC Article
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