SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article uri icon

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abstract

  • 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.

authors

  • Ciara, E
  • Popowska, E
  • Piekutowska-Abramczuk, D
  • Jurkiewicz, D
  • Borucka-Mankiewicz, M
  • Kowalski, Paweł
  • Goryluk-Kozakiewicz, B
  • Nowaczyk, Malgorzata
  • Krajewska-Walasek, M

publication date

  • November 2006