title: A large TAT deletion in a tyrosinaemia type II patient.
abstract: A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene and three neighbouring genes. This is the first complete TAT deletion in tyrosinaemia type II described so far.
authors.affiliation: Division of Metabolism, Paediatrics Department, 5ª D, Cruces Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Vizcaya, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Legarda
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wlodarczyk
authors.forename: Sergio
authors.initials: S
authors.lastname: Lage
authors.forename: Fernando
authors.initials: F
authors.lastname: Andrade
authors.forename: Gwang-Jin
authors.initials: GJ
authors.lastname: Kim
authors.forename: Elke
authors.initials: E
authors.lastname: Bausch
authors.forename: Gerd
authors.initials: G
authors.lastname: Scherer
authors.forename: Luis Jose
authors.initials: LJ
authors.lastname: Aldamiz-Echevarria
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D017931:DNA Primers / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013030:Spain; D014444:Tyrosine Transaminase / Q000235:genetics*; D020176:Tyrosinemias / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; D014444:Tyrosine Transaminase