Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report clinical features and molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in two young patients, both born to consanguineous unions between first-degree cousins. These two unrelated families originated from Northern and Southern Tunisia. The clinical diagnosis was based on the observation of several complications related to Richner-Hanhart syndrome: recurrent eye redness, tearing and burning pain, photophobia, bilateral pseudodendritic keratitis, an erythematous and painful focal palmo-plantar hyperkeratosis and a mild delay of mental development. The diagnosis was confirmed by biochemical analysis. Sequencing of the TAT gene revealed the presence of a previously reported missense mutation (c.452G>A, p.Cys151Tyr) in a Tunisian family, and a novel G duplication (c.869dupG, p.Trp291Leufs 6). Early diagnosis of RHS and protein-restricted diet are crucial to reduce the risk and the severity of long-term complications of hypertyrosinemia such as intellectual disability.
Keywords: 3D; A; ABI; Adenine; Applied Biosystems; C; Cys; Cysteine; Cytosine; DNA; Degree Celsius; Deoxyribose Nucleic Acid; Duplication; Exo-SAP; Exonuclease-Shrimp Alcaline Phosphatase; Frameshift; G; Guanine; KCl; Kb; Kilobase; Leu; Leucine; Ligand-binding sites prediction; Lys; Lysine; MIM; Magnesium chloride; Mendelian Inheritance in Man; MgCl2; Microliter; Micromole per liter; Millimolar; Neonatal diagnosis; Novel mutation; PCR; Picomole; Polymerase Chain Reaction; Potassium Chloride; Pro; Proline; Protein; Richner–Hanhart syndrome; Second; T; Taq; Thermus aquaticus; Three-dimensional; Thymine; Tris(hydroxymethyl)aminomethane hydrochloride; Tris–HCl; Trp; Tryptophan; Tunisian families; Tyr; Tyrosine; dup; fs; mM; p; pmol; s; μL; μmol/L.
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