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

doi:https://doi.org/10.1016/j.ejmg.2013.05.005

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

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

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 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 language	English
Pages (from-to)	379-382
Number of pages	4
Journal	European journal of medical genetics
Volume	56
Issue number	7
DOIs	https://doi.org/10.1016/j.ejmg.2013.05.005
Publication status	Published - 1 Jul 2013
Externally published	Yes

Keywords

Chromosome X exome sequencing
HUWE1
Intellectual disability
Missense mutation

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title = "HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability",

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 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.",

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AU - Isrie, Mala

AU - Kalscheuer, Vera M.

AU - Holvoet, Maureen

AU - Fieremans, Nathalie

AU - Van Esch, Hilde

AU - Devriendt, Koenraad

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AB - 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.

KW - Chromosome X exome sequencing

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KW - Intellectual disability

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

Abstract

Keywords

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