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Genetics

TBC1D24 mutations are implicated in DOORS syndrome

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

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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.

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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

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

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