Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia
Why the study?
Does exome sequencing identify the genetic cause of familial combined hypolipidemia?
Population
Two family members with combined hypolipidemia
Design
Case_report
Authors
Discussion
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Member takes
Implication
ANGPTL3 mutations underlie familial combined hypolipidemia in these cases; hypothesis-generating and should not yet change practice.
Structured PICO
Does exome sequencing identify the genetic cause of familial combined hypolipidemia?
P
Population
Two family members with combined hypolipidemia (extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides)
I
Intervention
Exome sequencing
O
Outcome
Identification of genetic mutations causing familial combined hypolipidemiasurrogate
Exome sequencing identified ANGPTL3 nonsense mutations as a cause of familial combined hypolipidemia, highlighting its role in LDL cholesterol metabolism.
Cite This Study
Musunuru et al. (2010) studied this question.