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Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2011 May-Jun; Vol. 54 (3), pp. 205-8. Date of Electronic Publication: 2010 Dec 09. - Publication Year :
- 2011
-
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.<br /> (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Base Sequence
Corneal Diseases enzymology
Corneal Diseases pathology
DNA Mutational Analysis
Female
Humans
Keratoderma, Palmoplantar enzymology
Keratoderma, Palmoplantar pathology
Syndrome
Tyrosine Transaminase deficiency
Tyrosinemias enzymology
Tyrosinemias pathology
Young Adult
Corneal Diseases genetics
Keratoderma, Palmoplantar genetics
Mutation, Missense
Tyrosine Transaminase genetics
Tyrosinemias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 54
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 21145993
- Full Text :
- https://doi.org/10.1016/j.ejmg.2010.11.013