Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

Human Mutation

Volumn 10, Issue 6, 1997, Pages 465-473

  Mailly, France ^a   Palmen, Jutta ^a   Muller, David P R ^b   Gibbs, Tracy ^b   Lloyd, June ^b   Brunzell, John ^c   Durrington, Paul ^d   Mitropoulos, Kostas ^e   Betteridge, John ^f   Watts, Gerald ^e,i   Lithell, Hans ^g   Angelico, Franco ^h   Humphries, Steve E ^a   Talmud, Philippa J ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UPPSALA UNIVERSITY   (Sweden)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Familial lipoprotein lipase deficiency; Lipoprotein lipase mutations; Phenotype genotype relationship; SSCP

Indexed keywords

DNA; LIPOPROTEIN LIPASE;

ADULT; ANIMAL CELL; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; INFANT; ITALY; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SWEDEN; UNITED KINGDOM;

ADULT; ANIMALS; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; GENES; GENETIC HETEROGENEITY; GENOTYPE; GREAT BRITAIN; HETEROZYGOTE DETECTION; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INFANT; INFANT, NEWBORN; ITALY; LIPOPROTEIN LIPASE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SWEDEN; TRIGLYCERIDES;

ANIMALIA;

EID: 16944366335     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C     Document Type: Article

References (7)

1. Babirak SP, Iverius PH, Fujimoto WY, Brunzell JD (1989) Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 9:326-334.
2. Bagdade JD, Ritter MC, Lithel H, Bassett D, Mailly F, Talmud P, Hayden MR (1996) Reduced cholesteryl ester transfer in plasma of patients with lipoprotein lipase deficiency. J Lipid Res 37:1696-1703.
3. Bruin T, Tuzgol S, van Diermen DE, Hoogerbrugge van der Linden D, Brunzell JD, Hayden MR, Kastelein JJ (1993) Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly 154pSer substitution in lipoprotein lipase. J Lipid Res 34:2109-2119.
4. Brunzell JD (1989) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (ed): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, Pp 1165-1180.
5. Chimienti G, Capurso A, Resta F, Pepe G (1992) A GpC change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. Biochem Biophys Res Commun 187:620-627.
6. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
7. Cotton RG (1993) Current methods of mutation detection. Mutat Res 285:125-144.