PMID- 10660334
OWN - NLM
STAT- MEDLINE
DCOM- 20000202
LR  - 20171116
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - 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.
PG  - 217
AB  - 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.
FAU - Evans, D
AU  - Evans D
AD  - Medizinische Klinik, Universitatskrankenhaus Eppendorf, Martinistrasse 52, 20246 
      Hamburg, Germany.
FAU - Wendt, D
AU  - Wendt D
FAU - Ahle, S
AU  - Ahle S
FAU - Guerra, A
AU  - Guerra A
FAU - Beisiegel, U
AU  - Beisiegel U
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.1.1.34 (Lipoprotein Lipase)
SB  - IM
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Humans
MH  - Hyperlipoproteinemia Type I/*genetics
MH  - Infant
MH  - Lipoprotein Lipase/*genetics
MH  - Point Mutation/*genetics
EDAT- 2000/02/05 00:00
MHDA- 2000/02/05 00:01
CRDT- 2000/02/05 00:00
PHST- 2000/02/05 00:00 [pubmed]
PHST- 2000/02/05 00:01 [medline]
PHST- 2000/02/05 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):217.