title: Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
abstract: Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi-Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non-affected and one fetus was predicted to be affected. The concentration of N-acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non-affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.
authors.affiliation: Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: A
authors.initials: A
authors.lastname: Shaag
authors.forename: Y
authors.initials: Y
authors.lastname: Anikster
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000581:Amidohydrolases / Q000235:genetics; D000653:Amniotic Fluid / Q000737:chemistry; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001483:Base Sequence; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D001224:Aspartic Acid; D004247:DNA; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase