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

Mala Isrie, Vera M Kalscheuer, Maureen Holvoet, Nathalie Fieremans, Hilde Van Esch, Koenraad Devriendt

Onderzoeksoutput: Articlepeer review

12 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)379-82
Aantal pagina's4
TijdschriftEuropean Journal of Medical Genetics
Volume56
Nummer van het tijdschrift7
DOI's
StatusPublished - jul 2013

Bibliografische nota

Copyright © 2013 Elsevier Masson SAS. All rights reserved.

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