title: Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
abstract: The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C>T (P543L), 2053A>G (Q556A), 673-674insCC, and 1874+1G>A are described for the first time in this report. Mutations 1638C>T (R418W), 1588G>A(R401Q), and 1801-1802delAG are already known to be link to ALD.
authors.affiliation: Dip. Materno Infantile e di Biologia e Genetica, Università di Verona, Italy. macarena@borgoroma.univr.it
authors.forename: M G
authors.initials: MG
authors.lastname: Lira
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: I
authors.initials: I
authors.lastname: Medica
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D003066:Coenzyme A Ligases / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D017422:Sequence Analysis, DNA; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase