title: Report of hereditary persistence of alpha-fetoprotein in a Spanish family: molecular basis and clinical concerns.
abstract: The serum level of alpha-fetoprotein in normal adults is lower than 10 ng/ml. High levels of alpha-fetoprotein in adults are linked to cirrhosis, acute or chronic hepatitis, hepatocellular carcinomas and other pathologies, as well as to foetal malformation, and this protein is therefore used as a regular clinical marker for these diseases. We report a Spanish family in which very high levels of alpha-fetoprotein have been detected in nine members from the screening of a total of 17 relatives. These levels of alpha-fetoprotein are not accompanied by a causing pathology, are inherited as an autosomal dominant genetic trait, and are associated to a G-->A substitution at position -116 of the 5'-flanking region of the alpha-fetoprotein gene. This is an unusual benign trait of hereditary persistence of alpha-fetoprotein. This paper provides a detailed clinical report of the family including a study of the molecular basis of this trait. The desirability of a test to detect and/or rule out this benign trait in adults with abnormal levels of alpha-fetoprotein is considered.
authors.affiliation: Fundación Valenciana de Investigaciones Biomédicas, Instituto de Investigaciones Citológicas, Amadeo de Saboya 4, 46010 Valencia, Spain.
authors.forename: José R
authors.initials: JR
authors.lastname: Blesa
authors.forename: Remedios
authors.initials: R
authors.lastname: Giner-Durán
authors.forename: José
authors.initials: J
authors.lastname: Vidal
authors.forename: María L
authors.initials: ML
authors.lastname: Lacalle
authors.forename: Ignacio
authors.initials: I
authors.lastname: Catalán
authors.forename: Miguel
authors.initials: M
authors.lastname: Bixquert
authors.forename: Lourdes
authors.initials: L
authors.lastname: Igual
authors.forename: José
authors.initials: J
authors.lastname: Hernandez-Yago
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D013030:Spain; D000509:alpha-Fetoproteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins