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Medical News & Perspectives
April 7, 2015

Exome Sequencing Comes to the Clinic

Author Affiliations

Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA. 2015;313(13):1301-1303. doi:10.1001/jama.2015.1389

Vincent Pieterse was so eager to enter the world on December 16, 2002, that he couldn’t wait for the hospital. His startled father, Marc, delivered the boy in the family’s home in a small village in the southern Netherlands. Vincent seemed healthy as a baby, but at school he acquired labels of nonverbal learning disability and mild autism. By age 8, his learning disability, autism, hypotonia, extra teeth, and elastic skin prompted a pediatrician to gently suggest the possibility of a genetic syndrome. But tests for select neurological diseases and chromosomal abnormalities were negative, and no relatives shared symptoms with Vincent.