Wolfram Syndrome is associated with mutations in WFS1.

Chromosome: 4p16.1

Gene: WFS1

Protein: wolframin (transmembrane protein located in the endoplasmic reticulum)


Inheritance: autosomal recessive


Key clinical features (DIDMOAD):

(1) diabetes insipidus

(2) diabetes mellitus, type 1 (juvenile onset)

(3) optic atrophy

(4) deafness (sensorineural high-frequency hearing impairment)


Additional findings:

(1) psychiatric disease

(2) neurogenic bladder or bladder dyssynergia

(3) nystagmus

(4) cerebellar ataxia

(5) dementia

(5) cardiac malformations or cardiomyopathy

(6) hypothyroidism

(7) growth retardation

(8) delayed onset of puberty and/or hypogonadism

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