Novel mutations of SAR1B gene in four children with chylomicron retention disease

Simone M. L., Rabacchi C., Kuloğlu Z., Kansu Tanca A., Ensari A., Demir A. M., ...More

JOURNAL OF CLINICAL LIPIDOLOGY, vol.13, no.4, pp.554-562, 2019 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.1016/j.jacl.2019.05.013
  • Journal Name: JOURNAL OF CLINICAL LIPIDOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.554-562
  • Keywords: Recessive hypobetalipoproteinemia, Chylomicrons, Intestinal fat malabsorption, SAR1B gene, Consanguinity, FAMILIAL HYPOBETALIPOPROTEINEMIA, GTPASE
  • Ankara University Affiliated: Yes

Abstract

BACKGROUND: Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease).