Title: HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
Authors: Isrie, Mala
Kalscheuer, Vera M
Holvoet, Maureen
Fieremans, Nathalie
Van Esch, Hilde
Devriendt, Koenraad # ×
Issue Date: Jul-2013
Publisher: Elsevier
Series Title: European journal of medical genetics vol:56 issue:7 pages:379-82
Article number: S1769-7212(13)00123-7
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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