SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Previous studies estimated the prevalence of SLOS between 1 in 10,000 to 1 in 70,358 based on case frequency surveys. Although panethnic, SLOS appears to be most frequent in Central European populations (Czech Republic 1 in 10,000, Slovakia 1 in 15,000 - 1 in 20,000). In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations. We analyzed 2169 samples for the p.Trp151X mutation and 2087 for the p.Val326Leu mutation. The combined carrier frequency of these two mutations of was 2.40+/-0.32%, yielding a calculated incidence of SLOS in Poland of 2.5 4x10(-4)-4.3 5x10(-4) (1 in 2,300 to 1 in 3,937) placing SLOS among the most common recessive genetic disorders in Poland.
Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. e.ciara@czd.pl
E
E
Ciara
E
E
Popowska
D
D
Piekutowska-Abramczuk
D
D
Jurkiewicz
M
M
Borucka-Mankiewicz
Paweł
P
Kowalski
B
B
Goryluk-Kozakiewicz
M J M
MJ
Nowaczyk
M
M
Krajewska-Walasek
D000483:Alleles; D019943:Amino Acid Substitution; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D017354:Point Mutation; D011044:Poland / Q000453:epidemiology; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase