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Morreale Bubella R., Carità S., Morreale Bubella D.
Sezione di Oculistica, Dipartimento di Biomedicina Sperimentale e Neuroscienze Cliniche (BioNeC), Università degli Studi di Palermo, Palermo, Italia
The aim of this paper was to offer a further contribution to the knowledge of the Wolfram Syndrome within the Italian population about hypotheses of its genetic transmission and diagnostic problems. The study comprised the genetic investigation and the clinical ophthalmological examination of all the family members. Genetic investigation of family members showed the presence of a genetic disorder, consisting in a mutation of the gene wfs1, located on the short arm of chromosome 4, and which codifies for the protein Wolfranin. The gene wfs 1 presents high penetrance and expression, since the mutation is recessive, it can only be clinically detected when it is present in the homozygous form. It should be borne in mind that a correct diagnosis, followed by eventual genetic investigation, requires a careful investigation for the detection of early ocular damage (optic atrophy).