Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event

Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL...

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Bibliographic Details
Published in:American journal of medical genetics 1998-07, Vol.78 (4), p.313-316
Main Authors: Henderson, Howard E., Bijvoet, Saskia M., Mannens, Marcel A.M.M., Bruin, Taco, Erkelens, D. Willem, Hayden, Michael R., Kastelein, Johannes J.P.
Format: Article
Language:English
Subjects:
Adult
Aged
Amino Acid Substitution
Apolipoproteins E - blood
Apolipoproteins E - genetics
Biological and medical sciences
de novo mutation
Dinucleotide Repeats - genetics
Disorders of blood lipids. Hyperlipoproteinemia
Exons - genetics
Genotype
Haplotypes
human
Humans
Hyperlipoproteinemia Type I - blood
Hyperlipoproteinemia Type I - genetics
Isoleucine - genetics
Lipids - blood
Lipoprotein Lipase - genetics
LPL
Male
Medical sciences
Metabolic diseases
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Threonine - genetics
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Summary:Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL deficient on the basis of compound heterozygosity for the Arg243His and Ile225Thr mutations, the latter being the first and only mutation identified in the loop region of LPL. Both parents of the propositus were screened for the presence of these two mutations to confirm their status as obligate heterozygotes and to determine the mutation allocation. Although paternal inheritance of the Arg243His allele could be established, maternal DNA did not show carrier status for the Ile225Thr substitution. An examination of maternity, using LPL restriction fragment length polymorphisms four polymorphic CA repeats and ApoE genotypes, was consistent with correct biological parentage for the propositus. Therefore, we conclude that the Ile225Thr mutation constitutes a de novo event, the first to be reported in the LPL gene. Am. J. Med. Genet. 78:313–316, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980724)78:4<313::AID-AJMG1>3.0.CO;2-M