6533b7dcfe1ef96bd1272b4f
RESEARCH PRODUCT
Wolfram's syndrome and HLA.
P. PalmeriTeresa MattinaS. Li VoltiA. TribulatoFlorindo MollicaA. Salernosubject
MaleAdolescentGenotypeWolfram syndromechemical and pharmacologic phenomenaHuman leukocyte antigenBiologymedicine.disease_causeHLA AntigensGenotypemedicineHumansAlleleChildGeneGenetics (clinical)GeneticsMutationS syndromeChromosomeWolfram Syndromemedicine.diseasePedigreeOphthalmologyChild PreschoolPediatrics Perinatology and Child Healthdescription
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.
year | journal | country | edition | language |
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1988-03-01 | Ophthalmic paediatrics and genetics |