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キーワード:
Child
Child, Preschool
Chromosomes, Human, X/*genetics
Exome/genetics
Female
Humans
Intellectual Disability/diagnosis/*genetics
Male
*Mutation, Missense
Pedigree
*Phenotype
Ubiquitin-Protein Ligases/*genetics
Upper Extremity Deformities, Congenital/diagnosis/genetics
要旨:
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.
