A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
J Pediatr Endocrinol Metab
; 24(5-6): 389-91, 2011.
Article
em En
| MEDLINE
| ID: mdl-21823543
ABSTRACT
Wolfram syndrome is a progressive neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The majority of cases are caused by mutations in the WFS1 gene. WFS1 is located at 4p16.1 and encodes wolframin, a transmembrane endoplasmic reticulum (ER) protein involved in the negative regulation of ER stress signalling. To date, over 120 WFS1 mutations have been described. In this study, we report a consanguineous family with three siblings affected by Wolfram syndrome. A homozygous single base pair deletion (c.877delC, L293fsX303) was found in the WFS1 gene in all three affected siblings.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wolfram
/
Deleção de Sequência
/
Proteínas de Membrana
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article