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A large TAT deletion in a tyrosinaemia type II patient.

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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Legarda M,Wlodarczyk K,Lage S,Andrade F,Kim GJ,Bausch E,Scherer G,Aldamiz-Echevarria LJ

doi

10.1016/j.ymgme.2011.05.009

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

407-9

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00161-2

journal_volume

104

pub_type

杂志文章

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