A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Sequence variants and duplications in the HECT, UBA and WWE domain -containing 1 (HUWE1) E3 ubiquitin ligase gene have been associated with X-linked mild to severe intellectual disability (ID), but a solid phenotype pattern among the affected males is still remaining to be established. Here, we report a male patient with sporadic, severe and syndromic ID, carrying a novel and unique 842 kb duplication at Xp11.22, including the dosage-sensitive HUWE1 gene and other fifteen curated RefSeq genes.