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

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12 Citations (Scopus)


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 etal. (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.

Original languageEnglish
Pages (from-to)379-382
Number of pages4
JournalEuropean journal of medical genetics
Issue number7
Publication statusPublished - 1 Jul 2013
Externally publishedYes


  • Chromosome X exome sequencing
  • HUWE1
  • Intellectual disability
  • Missense mutation

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