caa a22 4500 467933685 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0310-3 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0310-3 Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations [Elektronische Daten] [Melchior Nierman, Jorge Peter, Kah-Lin Khoo, Joep Defesche] Summary: Lipoprotein lipase (LPL, triacylglycerol acylhydrolase; EC 3.1.1.3) deficiency (OMIM 238600) is an autosomal recessive inherited condition caused by mutations in the LPL gene, either in a homozygous or in a compound heterozygous state, leading to loss of lipolytic activity and resulting in severe hypertriglyceridaemia and subsequent risk for developing pancreatitis. Numerous LPL gene mutations leading to loss of catalytic function have been described. In this present study, we describe full clinical, biochemical and molecular analyses of severe hypertriglyceridaemic individuals in one Turkish and three Chinese families. We established one novel mutation (delCT1312-1313), a new combination of mutations (S193R and I194T) and four previously reported mutations (L252R, L252V, S193R and I194T) of the LPL gene and report phenotypes for these and four previously described mutations. Finally, we show that two patients homozygous for the LPL gene delCT1312-1313 mutations are characterized by absence of LPL activity that coincides with absence of LPL protein. SSIEM and Springer, 2006 Nierman Melchior Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Peter Jorge Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Khoo Kah-Lin Kelinek Dr. Khoo Kah Lin, Kuala Lumpur, Malaysia aut Defesche Joep Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 686-686 0141-8955 29:5<686 2006 29 10545 https://doi.org/10.1007/s10545-006-0310-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0310-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nierman Melchior Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Peter Jorge Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Khoo Kah-Lin Kelinek Dr. Khoo Kah Lin, Kuala Lumpur, Malaysia aut NATIONALLICENCE 700 1- Defesche Joep Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 686-686 0141-8955 29:5<686 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer