Whole-exome sequencing revealed novel compound heterozygous mutations in GPIHBP1 in an infant with severe hypertriglyceridemia and colitis.
Case Report (n=1)
Whole-exome sequencing identified novel GPIHBP1 mutations in a case of severe infantile hypertriglyceridemia presenting with colitis, suggesting a link between extreme hypertriglyceridemia and gastrointestinal mucosal injury.
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.
Gonzaga‐Jauregui et al. (Fri,) conducted a case report in Severe congenital hypertriglyceridemia and infantile colitis (n=1). Whole-exome sequencing was evaluated on Genetic diagnosis. Whole-exome sequencing revealed novel compound heterozygous mutations in GPIHBP1 in an infant with severe hypertriglyceridemia and colitis.
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