A missense mutation (Asp^2^5^0-〉Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma, Y.; Wilson, B.I.; Bijvoet, S.; Henderson, H.E.; Cramb, E.; Roederer, G.; Ven Murthy, M.R.; Julien, P.; Bakker, H.D.; Brunzell, J.D.; Kastelein, J.J.P.; Hayden, M.R. (Elsevier)
We have previously reported two common lipoprotein lipase (LPL) gene mutations underlying LPL deficiency in the majority of 37 French Canadians (Monsalve et al., 1990. J. Clin. Invest. 86: 728-734; Ma et al., 1991. N. Engl. J. Med. 324: 1761-1766). By examining the 10 coding exons of the LPL gene in another French Canadian patient, we have identified a third missense mutation that is found in two of the three remaining patients for whom mutations are undefined. This is a G to A transition in exon 6 that results in a substitution of asparagine for aspartic acid at residue 250. Using in vitro site-directed mutagenesis, we have confirmed that this mutation causes a catalytically defective LPL protein. In addition, the Asp^2^5^0-〉Asn mutation was also found on the same haplotype in an LPL-deficient patient of Dutch ancestry, suggesting a common origin. This mutation alters a TaqI restriction site in exon 6 and will allow for rapid screening in patients with LPL deficiency.
http://dx.doi.org/10.1016/0888-7543(92)90136-G
Keywords: W; WW-YZ