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Tyrosinemia type II (Richner–Hanhart syndrome) : a new mutation in the TAT gene


Čulić, Vida; Betz, Regina C.; Refke, Melanie; Fumić, Ksenija; Pavelić, Jasminka
Tyrosinemia type II (Richner–Hanhart syndrome) : a new mutation in the TAT gene // European journal of medical genetics, 54 (2011), 3; 205-208 doi:10.1016/j.ejmg.2010.11.013 (međunarodna recenzija, članak, znanstveni)


Naslov
Tyrosinemia type II (Richner–Hanhart syndrome) : a new mutation in the TAT gene

Autori
Čulić, Vida ; Betz, Regina C. ; Refke, Melanie ; Fumić, Ksenija ; Pavelić, Jasminka

Izvornik
European journal of medical genetics (1769-7212) 54 (2011), 3; 205-208

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Exon 12 ; mutation ; TAT gene ; Tyrosinemia type II

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
098-0982464-2394 - Gensko liječenje tumora djelovanjem na molekule imunološkog sustava (Jasminka Pavelić, )
108-1081870-1885 - Nasljedne metaboličke i ostale monogenske bolesti djece (Ivo Barić, )

Ustanove
Institut "Ruđer Bošković", Zagreb,
Medicinski fakultet, Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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