Details

Autor(en) / Beteiligte

• Musunuru, Kiran
• Pirruccello, James P
• Do, Ron
• Peloso, Gina M
• Guiducci, Candace
• Sougnez, Carrie
• Garimella, Kiran V
• Fisher, Sheila
• Abreu, Justin
• Barry, Andrew J
• Fennell, Tim
• Banks, Eric
• Ambrogio, Lauren
• Cibulskis, Kristian
• Kernytsky, Andrew
• Gonzalez, Elena
• Rudzicz, Nicholas
• Engert, James C
• DePristo, Mark A
• Daly, Mark J
• Cohen, Jonathan C
• Hobbs, Helen H
• Altshuler, David
• Schonfeld, Gustav
• Gabriel, Stacey B
• Yue, Pin
• Kathiresan, Sekar

Titel

Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

Ist Teil von

• The New England journal of medicine, 2010-12, Vol.363 (23), p.2220-2227

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2010

Quelle

MEDLINE

Beschreibungen/Notizen

• Two family members with combined hypolipidemia (low HDL and LDL cholesterol and low triglycerides) were evaluated and found to be compound heterozygotes, each for a different nonsense mutation in ANGPTL3, the gene encoding the angiopoietin-like 3 protein. Familial hypobetalipoproteinemia is an inherited disorder of lipid metabolism defined by very low levels (<5th percentile of age- and sex-specific values) of plasma apolipoprotein B and LDL cholesterol. Familial hypobetalipoproteinemia is genetically heterogeneous. 1 , 2 The best-characterized cases have been linked to mutations in the gene encoding apolipoprotein B ( APOB ) that lead to less apolipoprotein B synthesis and reduced secretion of very-low-density lipoprotein (VLDL) from the liver. As a consequence of impaired hepatic export of VLDL, persons with familial hypobetalipoproteinemia due to a deficiency of apolipoprotein B are prone to hepatic steatosis. 3 , 4 Persons with hypobetalipoproteinemia may also have . . .