de.mpg.escidoc.pubman.appbase.FacesBean
English
 
Help Guide Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

MPS-Authors
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50369

Kalscheuer,  V. M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Locator
There are no locators available
Fulltext (public)

Isrie.pdf
(Publisher version), 698KB

Supplementary Material (public)
There is no public supplementary material available
Citation

Isrie, M., Kalscheuer, V. M., Holvoet, M., Fieremans, N., Van Esch, H., & Devriendt, K. (2013). HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics, 56(7), 379-382. doi:10.1016/j.ejmg.2013.05.005.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0018-EDFD-4
Abstract
The advent of next-generation sequencing has proven to be a key force in the identification of new genes associated with intellectual disability. In this study, high-throughput sequencing of the coding regions of the X-chromosome led to the identification of a missense variant in the HUWE1 gene. The same variant has been reported before by Froyen et al. (2008). We compare the phenotypes and demonstrate that, in the present family, the HUWE1 mutation segregates with the more severe ID phenotypes of two out of three brothers. The third brother has a milder form of ID and does not carry the mutation.