Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/47404
Title: Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
Author: López de Heredia, Miguel
Clèries Soler, Ramon
Nunes Martínez, Virginia
Keywords: Mutació (Biologia)
Fenotip
Malalties hereditàries
Genètica humana
Degeneració (Patologia)
Mutation (Biology)
Phenotype
Genetic diseases
Human genetics
Degeneration (Pathology)
Issue Date: 21-Feb-2013
Publisher: American College of Medical Genetics and Genomics
Abstract: Purpose: Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which complicates the establishment of clear genotype-phenotype correlation. The purpose of this study was to elucidate the role of WFS1 mutations and update the natural history of the disease. Methods: This study analyzed clinical and genetic data of 412 patients with Wolfram syndrome published in the last 15 years. Results: (i) 15% of published patients do not fulfill the current ­inclusion criterion; (ii) genotypic prevalence differences may exist among countries; (iii) diabetes mellitus and optic atrophy might not be the first two clinical features in some patients; (iv) mutations are nonuniformly distributed in WFS1; (v) age at onset of diabetes mellitus, hearing defects, and diabetes insipidus may depend on the patient"s genotypic class; and (vi) disease progression rate might depend on genotypic class. Conclusion: New genotype-phenotype correlations were established, disease progression rate for the general population and for the genotypic classes has been calculated, and new diagnostic criteria have been proposed. The conclusions raised could be important for patient management and counseling as well as for the development of treatments for Wolfram syndrome.
Note: Versió postprint del document publicat a: http://dx.doi.org/10.1038/gim.2012.180
It is part of: Genetics in Medicine, 2013, vol. 15, num. 7, p. 497-506
Related resource: http://dx.doi.org/10.1038/gim.2012.180
URI: http://hdl.handle.net/2445/47404
ISSN: 1098-3600
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Fisiològiques)

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