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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

Claudia Gonzaga-Jauregui1, Sabina Mir, Samantha Penney

  • 1*Department of Molecular and Human Genetics †Department of Pediatrics ‡Human Genome Sequencing Center §Section of Pediatric Pathology, Department of Pathology, Baylor College of Medicine, Houston, TX.

Journal of Pediatric Gastroenterology and Nutrition
|March 12, 2014
PubMed

Insights

Severe congenital hypertriglyceridemia, a rare genetic disorder, can manifest with gastrointestinal bleeding. Whole-exome sequencing identified novel mutations in GPIHBP1, expanding the known genetic causes of this condition.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Severe congenital hypertriglyceridemia (HTG) is a rare genetic disorder.
  • It is typically caused by mutations affecting lipoprotein lipase (LPL) activity.

Observation:

  • A 5-week-old Hispanic infant presented with severe HTG (12,031 mg/dL) and unusual symptoms of lower gastrointestinal bleeding and milky plasma.
  • Initial colonoscopy suggested colitis, which improved as triglyceride levels decreased.

Findings:

  • Standard LPL gene sequencing was negative.
  • Whole-exome sequencing identified novel compound heterozygous mutations in the GPIHBP1 gene.
  • This expands the known genetic basis of HTG.

Implications:

  • The findings broaden the clinical phenotype associated with GPIHBP1 mutations.
  • This case highlights the utility of whole-exome sequencing for diagnosing rare Mendelian disorders.
  • The study suggests a potential role for high triglyceride levels in causing gastrointestinal mucosal injury.

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