Article
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
Diabetes care - 1 Sept 2008
d'Annunzio Giuseppe, Minuto Nicola, D'Amato Elena, de Toni Teresa, Lombardo Fortunato, Pasquali Lorenzo, Lorini Renata
Abstract excerpt
OBJECTIVE: Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. RESEARCH DESIGN AND METHODS: We evaluated six...
Topics
- Brain
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Female
- Genetic Variation
- Genotype
- Humans
- Male
- Membrane Proteins
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Wolfram Syndrome