Article
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Molecular genetics and metabolism - 1 Feb 2008
Tein Ingrid, Elpeleg Orly, Ben-Zeev Bruria, Korman Stanley H, Lossos Alexander, Lev Dorit, Lerman-Sagie Tally, Leshinsky-Silver Esther, Vockley Jerry, Berry Gerard T, Lamhonwah Anne-Marie, Matern Dietrich, Roe Charles R, Gregersen Niels
Abstract excerpt
We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable...
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