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Autosomal dominant diabetes arising from a wolfram syndrome 1 mutation

Diabetes, ISSN: 0012-1797, Vol: 62, Issue: 11, Page: 3943-3950
2013
  • 96
    Citations
  • 0
    Usage
  • 71
    Captures
  • 2
    Mentions
  • 2
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    96
  • Captures
    71
  • Mentions
    2
    • Blog Mentions
      1
      • Blog
        1
    • References
      1
      • Wikipedia
        1
  • Social Media
    2
    • Shares, Likes & Comments
      2
      • Facebook
        2

Article Description

We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritance. We sequenced the exomes of four affected members of this family and performed follow-up genotyping of additional affected and unaffected family members. We uncovered a novel nonsynonymous variant (p.Trp314Arg) in the Wolfram syndrome 1 (WFS1) gene that segregates completely with the diabetic phenotype. Multipoint parametric linkage analysis with 13 members of this family identified a single linkage signal with maximum logarithm of odds score 3.01 at 4p16.2-p16.1, corresponding to a region harboring the WFS1 locus. Functional studies demonstrate a role for this variant in endoplasmic reticulum stress, which is consistent with the β-cell failure phenotype seen in mutation carriers. This represents the first compelling report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes. © 2013 by the American Diabetes Association.

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