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Wolfram syndrome

Thursday 12 January 2006

Definition: Autosomal recessive disease associating diabetes insipidus, diabetes mellitus and deafness.

Synopsis

- growth retardation
- sensorineural hearing loss
- optic atrophy
- pigmentary retinopathy
- ptosis
- nystagmus
- cardiomyopathy
- testicular atrophy
- hydronephrosis
- hydroureter
- neurogenic bladder
- limited mobility of proximal interphalangeal joint
- mental retardation
- seizures
- ataxia
- tremor
- dysphagia
- dysarthria
- stroke-like episodes
- psychiatric disorders
- Brain atrophy
- diabetes mellitus
- diabetes insipidus
- hypothyroidism
- megaloblastic anemia
- sideroblastic anemia
- thrombocytopenia

Etiology

- Locus WFS1 at 4p: germline mutation in the gene encoding wolframin (WFS1) (MIM.606201)
- Locus WFS2 at 4q : germline mutations of ZCD2 gene (MIM.604928)

References

- Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct;81(4):673-83. PMID: 17846994