Tyrosinemia type II (Richner–Hanhart syndrome) : a new mutation in the TAT gene (CROSBI ID 166989)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Čulić, Vida ; Betz, Regina C. ; Refke, Melanie ; Fumić, Ksenija ; Pavelić, Jasminka
engleski
Tyrosinemia type II (Richner–Hanhart syndrome) : a new mutation in the TAT gene
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.
exon 12 ; mutation ; TAT gene ; Tyrosinemia type II
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Podaci o izdanju
54 (3)
2011.
205-208
objavljeno
1769-7212
1878-0849
10.1016/j.ejmg.2010.11.013
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti