A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis
| Autor: | Harry Pachajoa, Juan David López-Ponce de León, Jose Antonio Nastasi-Catanese, Gabriel D Pinilla-Monsalve, Lisa X. Rodríguez-Rojas, Alejandro López, Juliana Lores |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Apolipoprotein B Gastroenterology Frameshift mutation 03 medical and health sciences symbols.namesake 0302 clinical medicine Recurrent pancreatitis Internal medicine Genetics medicine Genetics (clinical) Sanger sequencing Past medical history biology business.industry Hypertriglyceridemia medicine.disease 030104 developmental biology Mutation (genetic algorithm) biology.protein symbols Pancreatitis lipids (amino acids peptides and proteins) business 030217 neurology & neurosurgery |
| Zdroj: | The Application of Clinical Genetics. 13:63-69 |
| ISSN: | 1178-704X |
| Popis: | Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis. |
| Databáze: | OpenAIRE |
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