title: Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients.
abstract: Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC-->GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Both mutations are predicted to cause premature termination of protein synthesis. The patients were affected by childhood cerebral adrenoleukodystrophy and by adrenomyeloneuropathy with mild Addison disease, respectively.
authors.affiliation: Istituto di Biologia e Genetica, Università di Verona, Italy. macarena@borgoroma.univr.it
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: C
authors.initials: C
authors.lastname: Perusi
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D000328:Adult; D002648:Child; D005091:Exons; D016368:Frameshift Mutation / Q000502:physiology*; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction