Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
OBJECTIVE
We review our experience using mutation analysis of the DHCR7 gene for prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder of endogenous cholesterol biosynthesis caused by deficiency of 7-dehydrocholesterol reductase (DHCR7).


RESULTS
Prenatal diagnosis of SLOS was conducted for 21 pregnancies involving 15 families. DNA was isolated directly from amniotic fluid cells or chorionic villus samples (CVS), and the DHCR7 gene was screened for the parental mutations using PCR-ARMS and nucleotide sequencing. Sixteen of the pregnancies were unaffected and five were affected. There have been no incidences of misdiagnosed pregnancies.


CONCLUSIONS
DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS, and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS.
Waye
John S
JS
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton ON, Canada L8N 3Z5, Canada. waye@hhsc.ca
Eng
Barry
B
Nowaczyk
Małgorzata J M
MJ
D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase