A large TAT deletion in a tyrosinaemia type II patient

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

来源：Molecular Genetics and Metabolism, 2011, 104(3): 407-409.

DOI：10.1016/j.ymgme.2011.05.009

• Tyrosinaemia
• TAT deletion
• Keratitis
• Hyperkeratotic lesion

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 193 kb encompassing the complete TAT gene and three neighbouring genes. This is the first complete TAT deletion in tyrosinaemia type II described so far.

• 出版日期2011-11