Article
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
European journal of medical genetics - 1 Apr 2023
Santos-Rebouças Cíntia B, Boy Raquel, Fernandes Gabriela N S, Gonçalves Andressa P, Abdala Bianca B, Gonzalez Lucas G C, Dos Santos Jussara M, Pimentel Márcia M G
Abstract excerpt
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,...
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