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 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.
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
authors.forename: Mala
authors.initials: M
authors.lastname: Isrie
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: Maureen
authors.initials: M
authors.lastname: Holvoet
authors.forename: Nathalie
authors.initials: N
authors.lastname: Fieremans
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis / Q000235:genetics
chemical_list: D025521:Tumor Suppressor Proteins; C502830:HUWE1 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: Chromosome X exome sequencing; HUWE1; Intellectual disability; Missense mutation