Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.
Familial chylomicronemia is an autosomal recessive disease characterised by fasting triglyceridemia and an absence of lipoprotein lipase (LpL) activity in post-heparin plasma. The disease is a result of mutation in either the lipoprotein lipase (Lpl) gene or in the apoCII gene which codes for an essential co-factor. To date, over 80 mutations in the LpL gene have been reported. The proband, a 30 month old female, presented with fasting triglycerides of 3192 mg/dl, and no detectable LpL mass or activity in post-heparin plasma. Sequencing of all of the exons and exon/intron boundaries of the LpL gene showed that she was a compound heterozygote with G-A transitions in codon 188 (G188E:GGG to GAG) generating an avall restriction site and in codon 259 (S259G:AGT to GGT) generating a bssKI site. Restriction digests confirmed the mutations and determined the incidence within the family. The father (55%LPL activity), paternal aunt (82%) and paternal grandmother (29%) were all heterozygous for the S259G mutation whilst her sister (55%), mother (73%) and maternal grandfather (45%) were heterozygous for the G188E mutation. The maternal grandmother (114%) was unaffected.
Evans
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D
Medizinische Klinik, Universitátskrankenhaus Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Wendt
D
D
Ahle
S
S
Guerra
A
A
Beisiegel
U
U
D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D007223:Infant; D008071:Lipoprotein Lipase / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
D008071:Lipoprotein Lipase