Search results for "Wolfram syndrome"
showing 3 items of 3 documents
Su un caso di sindrome di Wolfram
2011
To aim of this paper was to offer a further contribution to the knowledge af the Wolfram Syndrome within the Italian population about hypotheses of its genetic trasmission 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 wfs1 presents high penetrance and expression,since the mutation is recessive, it can only be clinicallly detected when it is present in the homozygous form. It sh…
Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome
2014
Wolfram Syndrome (WS) is a rare hereditary disease with autosomal recessive inheritance with incomplete penetrance. It is characterized by diabetes mellitus associated with progressive optic atrophy. The diagnosis is essentially clinical and mutation analysis is used to confirm the diagnosis. In the present study we describe the clinical and molecular features of a diabetic child carrying two novel WFS1 mutations. The Sicilian proband and his non-affected family were studied. Ophthalmologic examination included: visual acuity determination and funduscopy, optical coherent tomography, retinal fluorangiography, perimetry and electroretinogram. Molecular methods: automatic sequencing of PCR am…
Wolfram's syndrome and HLA.
1988
A Sicilian family with three siblings affected by Wolfram's syndrome (Ws) is reported. HLA typing was performed in eight individuals from this family through three generations. Two of the three patients were HLA DR2 positive. The results suggest that the gene for Ws is not linked to the HLA region on chromosome 6, but located on some other chromosome, and that the allele HLA DR2 might predispose to the mutation responsible for Ws.