Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • In Brief
  • Published:

Genetics

TBC1D24 mutations are implicated in DOORS syndrome

Nature Reviews Neurology volume 10, page 3 (2014)Cite this article

Subjects

Access through your institution
Buy or subscribe

Mutations in the TBC1D24 gene could be a frequent cause of DOORS (deafness, onychodystrophy, mental retardation, and seizures) syndrome, according to an exome-sequencing study. TBC1D24 mutations were found in nine of 18 families that contained members with all five main features of DOORS. The authors suggest, however, that screening for TBC1D24 mutations should be extended to individuals with only a subset of these features, as the genotype–phenotype relationship is likely to be complex.

This is a preview of subscription content, access via your institution

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 10.1016/S1474-4422(13)70265-5

Download references

Rights and permissions

Reprints and permissions

About this article

Cite this article

TBC1D24 mutations are implicated in DOORS syndrome. Nat Rev Neurol 10, 3 (2014). https://doi.org/10.1038/nrneurol.2013.260

Download citation

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/nrneurol.2013.260

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing