Document Detail


Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.
MedLine Citation:
PMID:  10719329     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Delta(7)-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had been performed at 30 weeks because oligohydramnios and atrioventricular septal defect were noted on fetal ultrasound. On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally, and cutaneous syndactyly of toes two-three bilaterally suggested SLOS. We hypothesized that SLOS could be confirmed by analysis of tissue sterols despite extensive autolysis, and by measurement of enzyme activity in CV cells. Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. CV cells were unable to convert any ergosterol to brassicasterol after a 72 h incubation period while control CV cells reduced 12.6-71.8% of ergosterol to brassciasterol in a 72 h period. SLOS was confirmed by measurement of elevated 7-dehydrocholesterol (7-DHC) in the CV cells. Measurements of sterols were made in multiple fetal tissues. All tissues analysed showed elevated 7-DHC with markedly increased 7-DHC/cholesterol ratios.
Authors:
L M Linck; S J Hayflick; D S Lin; K P Battaile; S Ginat; T Burlingame; K M Gibson; M Honda; A Honda; G Salen; G S Tint; W E Connor; R D Steiner
Related Documents :
1637769 - Detection of fetal dna in trans-cervical swabs from first trimester pregnancies by gene...
8341639 - Prenatal diagnosis of isolated bilateral microphthalmia with confirmation by evaluation...
2894769 - Prenatal diagnosis and carrier detection of duchenne muscular dystrophy by restriction ...
15266209 - A look at a hispanic and african american population in an urban prenatal diagnostic ce...
16690729 - Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndro...
3124999 - Risks of chorion villus sampling.
9859959 - Maternal and perinatal factors related to maternal-infant transmission of hiv-1 in the ...
11437629 - Pregnancy: success and failure within the th1/th2/th3 paradigm.
8893679 - Prospective controlled randomized study of in vitro fertilization versus intracytoplasm...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  20     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-05-11     Completed Date:  2000-05-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  238-40     Citation Subset:  IM    
Copyright Information:
Copyright 2000 John Wiley & Sons, Ltd.
Affiliation:
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Cholesterol / analysis
Chorionic Villi / enzymology*
Chorionic Villi Sampling*
Dehydrocholesterols / analysis
Ergosterol / metabolism
Female
Fetal Death*
Gestational Age
Humans
Oxidoreductases / analysis,  deficiency*,  metabolism
Oxidoreductases Acting on CH-CH Group Donors*
Pregnancy
Smith-Lemli-Opitz Syndrome / diagnosis*
Sterols / analysis*
Ultrasonography, Prenatal
Chemical
Reg. No./Substance:
0/Dehydrocholesterols; 0/Sterols; 434-16-2/7-dehydrocholesterol; 57-87-4/Ergosterol; 57-88-5/Cholesterol; EC 1.-/Oxidoreductases; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.1.21/7-dehydrocholesterol reductase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Prenatal control of severe thalassaemia: Chiang Mai strategy.
Next Document:  Learning in medicine: chorionic villus sampling.