Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation

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Kose E., Armagan C., Kisa P., Onay H., Arslan N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.11, pp.1289-1293, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 11
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2018-0280
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1289-1293
  • Keywords: APOC2 gene, familial apo C-II deficiency, hyperchylomicronemia, infant, novel mutation, APOLIPOPROTEIN-C-II, LIPOPROTEIN-LIPASE DEFICIENCY, HYPERTRIGLYCERIDEMIA
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background: Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene.