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

Isrie, M.; Kalscheuer, V. M.; Holvoet, M.; Fieremans, N.; Van Esch, H.; Devriendt, K.

doi:10.1016/j.ejmg.2013.05.005

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

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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;

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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: https://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.