Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia.

@article{Marcil2006IdentificationOA,
  title={Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia.},
  author={Michel Marcil and Hai Vu and Wei Cui and Zari Dastani and James C. Engert and Daniel Gaudet and Manuel Castro-Cabezas and Allan David Sniderman and Jacques Genest and Katherine Cianflone},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={2006},
  volume={26 7},
  pages={1619-25}
}
OBJECTIVE A functional acylation stimulating protein (ASP) receptor, C5L2, has been recently identified in ASP-responsive cells. Impaired ASP-mediated triglyceride synthesis has previously been described in a subset of hyperapolipoprotein B/familial combined hyperlipidemia subjects. METHODS AND RESULTS DNA sequencing of C5L2 coding region in 61 unrelated probands identified a heterozygous variant (G968-->T) in 1 subject, resulting in Ser323-->Ile substitution in the carboxyl terminal region… CONTINUE READING