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.
©2011 by Walter de Gruyter Berlin Boston
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- Letter to the Editor
- Meetings
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Articles in the same Issue
- Publisher's Note
- Publisher's Note
- Editorial
- The damage caused by incomplete and uncontrolled medical information
- Images in Pediatric Endocrinology
- Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra
- Original Contributions
- Are adolescent weight-related problems and general well-being essentially an issue of age, gender or rather a pubertal timing issue?
- Comparison of methimazole and propylthiouracil in the management of children and adolescents with Graves’ disease: efficacy and adverse reactions during initial treatment and long-term outcome
- The effect of glucocorticoid replacement therapy on bone mineral density in children with congenital adrenal hyperplasia
- Treatment of symptomatic osteoporosis in children: a comparison of two pamidronate dosage regimens
- Stanozolol regulates proliferation of growth plate chondrocytes via activation of ERα in GnRHa-treated adolescent rats
- A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy
- The role of metabolic syndrome components and adipokines in insulin resistance in prepubertal children
- A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones
- Causes and patterns of referral to a tertiary, multidisciplinary program for the treatment of childhood obesity
- Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome
- Plasma leptin and adiponectin concentrations in healthy, non-obese children
- Puberty and pubertal growth dynamics in children with idiopathic short stature
- Endocrine complications following pediatric bone marrow transplantation
- Rare hypertension as a result of 17α-hydroxylase deficiency
- Girls with early puberty attain a near-final height similar to their target height
- Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine
- Benign transient hyperphosphatasemia in infants and children: a prospective cohort
- The relation between 25-hydroxyvitamin D with peak bone mineral density and body composition in healthy young adults
- Childhood obesity: evidence of an association between plasminogen activator inhibitor-1 levels and visceral adiposity
- Glargine basal-bolus insulin regimen versus insulin pump therapy: comparison of glycemic control
- Patient Report Letters
- A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus
- HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
- A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene
- Hyperthyroidism presenting with hyperglycemia in an adolescent female
- Short Communications
- A single base-pair deletion in the WFS1 gene causes Wolfram syndrome
- Growth suppression caused by corticosteroid eye drops
- Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
- Letter to the Editor
- Meetings
- Meetings Calendar