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...

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Bibliographic Details
Published in:European journal of medical genetics 2013-07, Vol.56 (7), p.379-382
Main Authors: Isrie, Mala, Kalscheuer, Vera M, Holvoet, Maureen, Fieremans, Nathalie, Van Esch, Hilde, Devriendt, Koenraad
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Chromosome X exome sequencing
Chromosomes, Human, X - genetics
Exome - genetics
Female
Humans
HUWE1
Intellectual disability
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Medical Education
Missense mutation
Mutation, Missense
Pedigree
Phenotype
Ubiquitin-Protein Ligases - genetics
Upper Extremity Deformities, Congenital - diagnosis
Upper Extremity Deformities, Congenital - genetics
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Summary: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
1878-0849
DOI:10.1016/j.ejmg.2013.05.005