Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

British Journal of Dermatology

Volumn 160, Issue 3, 2009, Pages 704-706

  Pasternack, S M ^a   Betz, R C ^a   Brandrup, F ^b   Gade, E F ^b   Clemmensen, O ^b   Lund, A M ^c   Christensen, E ^c   Bygum, A ^b  

^a UNIVERSITY OF BONN   (Germany)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c Rigshospitalet   (Denmark)

Author keywords

Mutation analysis; Oculocutaneous tyrosinaemia type II; Richner Hanhart syndrome; TAT gene

Indexed keywords

TYROSINE;

ADULT; ARTICLE; AUTOSOMAL DISORDER; BLOOD LEVEL; CASE REPORT; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; PROTEIN RESTRICTION; RICHNER HANHART SYNDROME; TREATMENT OUTCOME; TYROSINE AMINOTRANSFERASE GENE; TYROSINEMIA;

ADULT; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; MUTATION; PEDIGREE; SKIN DISEASES, GENETIC; TYROSINE TRANSAMINASE; TYROSINEMIAS;

EID: 60449098693     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08888.x     Document Type: Article

References (10)

1. Bygum A, Brandrup F, Gade EF et al. Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia). Ugeskr Laeger 2008 170 : 655 (In Danish).
2. Maydan G, Andresen BS, Madsen PP et al. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. J Inherit Metab Dis 2006 29 : 620 6.
3. Minami-Hori M, Ishida-Yamamoto A, Katoh N et al. Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. J Dermatol Sci 2006 41 : 82 4.
4. Charfeddine C, Monastiri K, Mokni M et al. Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. Mol Genet Metab 2006 88 : 184 91.
5. Natt E, Kida K, Odievre M et al. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci USA 1992 89 : 9297 301.
6. Huhn R, Stoermer H, Klingele B et al. Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet 1998 102 : 305 13.
7. Goldsmith LA. Tyrosine-induced skin disease. Br J Dermatol 1978 98 : 119 23.
8. Bohnert A, Anton-Lamprecht I. Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. J Invest Dermatol 1982 79 : 68 74.
9. Shimizu N, Ito M, Ito K et al. Richner-Hanhart's syndrome. Electron microscopic study of the skin lesion. Arch Dermatol 1990 126 : 1342 6.
10. Bardelli AM, Borgogni P, Farnetani MA et al. Familial tyrosinaemia with eye and skin lesions. Presentation of two cases. Ophthalmologica 1977 175 : 5 9.