@article {259,
	title = {Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.},
	journal = {J Pediatr Gastroenterol Nutr},
	volume = {59},
	year = {2014},
	month = {2014 Jul},
	pages = {17-21},
	abstract = {<p>Severe congenital hypertriglyceridemia (HTG) is a rare disorder caused by mutations in genes affecting lipoprotein lipase (LPL) activity. Here we report a 5-week-old Hispanic girl with severe HTG (12,031 mg/dL, normal limit 150 mg/dL) who presented with the unusual combination of lower gastrointestinal bleeding and milky plasma. Initial colonoscopy was consistent with colitis, which resolved with reduction of triglycerides. After negative sequencing of the LPL gene, whole-exome sequencing revealed novel compound heterozygous mutations in GPIHBP1. Our study broadens the phenotype of GPIHBP1-associated HTG, reinforces the effectiveness of whole-exome sequencing in Mendelian diagnoses, and implicates triglycerides in gastrointestinal mucosal injury. </p>},
	keywords = {Colitis, DNA Mutational Analysis, Exome, Female, Humans, Hypertriglyceridemia, Infant, Receptors, Lipoprotein},
	issn = {1536-4801},
	doi = {10.1097/MPG.0000000000000363},
	author = {Gonzaga-Jauregui, Claudia and Mir, Sabina and Penney, Samantha and Jhangiani, Shalini and Midgen, Craig and Finegold, Milton and Muzny, Donna M and Wang, Min and Bacino, Carlos A and Gibbs, Richard A and Lupski, James R and Kellermayer, Richard and Hanchard, Neil A}
}
