Wolfram's syndrome

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Wolfram's syndrome:

  • this is a rare autosomal recessive condition that predisposes to the development of type 1 diabetes mellitus (DM) and optic atrophy (OA)
  • other clinical features can include diabetes insipidus (DI) and deafness D) (when these are present the condition is often referred to as DIDMOAD)
  • other possible conditions that may occur include renal tract abnormalities, psychiatric disorders, short stature and hypogonadism
    • renal abnormalities associted with Wolfram's syndrome include hydrouteronephrosis and bladder abnormalities
  • Wolfram syndrome is caused by a mutation in the WFS1 gene
    • the gene has been mapped to chromosome 4p16.1
      • WFS1 is an 8 exon gene encoding for a 890 amino-acid protein called wolframin
        • the wolframin protein is believed to code for a novel endoplasmic reticulum calcium channel.
    • inheritance of Wolfram's syndrome of two mutant alleles (i.e. it is an autosomal recessive disorder)

Reference:

  1. Strom TM et al.. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998;7:2021-8.

Last reviewed 01/2018

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