Open AccessWhole‐Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia
Author(s) -
GonzagaJauregui Claudia,
Mir Sabina,
Penney Samantha,
Jhangiani Shalini,
Midgen Craig,
Finegold Milton,
Muzny Donna M.,
Wang Min,
Bacino Carlos A.,
Gibbs Richard A.,
Lupski James R.,
Kellermayer Richard,
Hanchard Neil A.
Publication year - 2014
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/mpg.0000000000000363
Subject(s) - exome sequencing , medicine , hypertriglyceridemia , exome , compound heterozygosity , genetics , mutation , gastroenterology , gene , biology , triglyceride , cholesterol
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.