Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
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Sabine Mütze
Abstract
Objective: An association between maternal HELLP syndrome and fetal long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has been proposed. LCHAD catalyzes the third step in the β-oxidation of fatty acids in mitochondria. Whereas about 75% of LCHAD-deficient patients carry a G-to-C mutation at nucleotide position 1528 (Glu474Gln, E474Q) on both chromosomes, compound heterozygosity for E474Q on one chromosome and a second different LCHAD mutation on the other can be observed in up to 25% of LCHAD-deficiency cases; only very few patients carry two mutations different from E474Q. Genetic analysis of the mother alone is insufficient in case of compound heterozygosity. Since information on the fetal carrier status of the E474Q mutation in maternal HELLP syndrome is rare, we investigated the frequency of the E474Q mutation in families where the mother had HELLP syndrome.
Methods: The occurrence of the E474Q mutation was analyzed by PCR and RFLP in 103 mothers with HELLP syndrome, in 82 children of affected pregnancies and in 21 fathers in families where fetal DNA was not available. In addition, 103 control women with only uncomplicated pregnancies were investigated.
Results: The mutation E474Q was not detected in the study population.
Conclusion: Neither maternal nor fetal heterozygosity for the E474Q mutation is a relevant factor of HELLP syndrome.
References
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©2007 by Walter de Gruyter Berlin New York
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Articles in the same Issue
- Cervical surgery and preterm birth
- How useful is 3D and 4D ultrasound in perinatal medicine?
- The combined effect of maternal smoking and obesity on the risk of preeclampsia
- Slow change in body mass index during early triplet pregnancy is associated with decreased birth weight
- Examining the relationship between positive mid-gestational fetal fibronectin assays and histological evidence of acute placental inflammation
- Paternal smoking is associated with a decreased prevalence of type 1 diabetes mellitus among offspring in two national British birth cohort studies (NCDS and BCS70)
- Three-dimensional ultrasound power Doppler assessment of the cervix: comparison between nulliparas and multiparas
- Gender- and parity-specific reference charts for fetal size in low risk singleton pregnancies at the onset of the third trimester
- Near term twin pregnancy: clinical relevance of weight discordance at birth
- Intracerebellar hemorrhage in premature infants: sonographic detection and outcome
- Determining the least time required for measuring energy expenditure in premature neonates
- Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
- Long-term subcutaneous morphine administration after surgery in newborns
- Superior sagittal sinus thrombosis: a rare but serious complication of hypernatremic dehydration in newborns
- Congress Calendar
- Roster of Perinatal Societies
