title: Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
abstract: In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner-Hanhart syndrome, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities. Sequencing analysis of the TAT gene revealed a novel homozygous missense mutation c.1250G>A (p.R417Q) in exon 12, and herewith confirmed the clinical diagnosis. Showing the first symptoms in babyhood, at the age of 8 years it was for the first time clinically diagnosed that the patient suffers from tyrosinemia type II and a therapy with tyrosine and phenylalanine reduced diet has been started successfully. All symptoms disappeared within 2-4 weeks. Since that time, we have been following the girl until today for more than ten years. She is in a good condition, and attends the normal high school program.
authors.affiliation: University Hospital Split, Department of Pediatrics, Division for Medical Genetics, Spinčićeva 1, 21000 Split, Croatia.
authors.forename: Vida
authors.initials: V
authors.lastname: Culic
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Melanie
authors.initials: M
authors.lastname: Refke
authors.forename: Ksenija
authors.initials: K
authors.lastname: Fumic
authors.forename: Jasminka
authors.initials: J
authors.lastname: Pavelic
mesh_terms: D001483:Base Sequence; D003316:Corneal Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D013577:Syndrome; D014444:Tyrosine Transaminase / Q000172:deficiency / Q000235:genetics*; D020176:Tyrosinemias / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D014444:Tyrosine Transaminase