A large TAT deletion in a tyrosinaemia type II patient

Maria Legarda; Katarzyna Wlodarczyk; Sergio Lage; Fernando Andrade; Gwang-Jin Kim; Elke Bausch; Gerd Scherer; Luis Jose Aldamiz-Echevarria

doi:10.1016/j.ymgme.2011.05.009

A large TAT deletion in a tyrosinaemia type II patient

Mol Genet Metab. 2011 Nov;104(3):407-9. doi: 10.1016/j.ymgme.2011.05.009. Epub 2011 May 16.

Authors

Maria Legarda¹, Katarzyna Wlodarczyk, Sergio Lage, Fernando Andrade, Gwang-Jin Kim, Elke Bausch, Gerd Scherer, Luis Jose Aldamiz-Echevarria

Affiliation

¹ Division of Metabolism, Paediatrics Department, 5ª D, Cruces Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Vizcaya, Spain.

PMID: 21636300
DOI: 10.1016/j.ymgme.2011.05.009

Abstract

A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene and three neighbouring genes. This is the first complete TAT deletion in tyrosinaemia type II described so far.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Codon, Nonsense
DNA Primers / genetics
Female
Frameshift Mutation / genetics
Gene Deletion*
Humans
Infant
Molecular Sequence Data
Polymerase Chain Reaction
Sequence Analysis, DNA
Spain
Tyrosine Transaminase / genetics*
Tyrosinemias / genetics*

Substances

Codon, Nonsense
DNA Primers
Tyrosine Transaminase