Xp11.2 microduplications including @entity49548 , @entity37923 and XXXX genes in @entity1 with neurodevelopmental disorders.

@entity1 @entity38268 @entity6631 @entity71 @entity24437 @entity2915 @entity49548 @entity717 @entity37923
UNASSIGNED: Copy number variations are a common cause of @entity717 ( @entity717 ). Determining the contribution of copy number variants (CNVs), particularly gains, to disease remains challenging. Here, we report four males with @entity717 with sub-microscopic duplications at Xp11.2 and review the few cases with overlapping duplications reported to date. We established the extent of the duplicated regions in each case encompassing a minimum of three known disease genes @entity37923 , @entity6631 and @entity49548 with one case also duplicating the known disease gene @entity38268 . @entity1 with a duplication encompassing @entity37923 , @entity6631 and @entity49548 without gains of nearby @entity24437 and @entity38268 genes have not been reported thus far. All cases presented with @entity717 and significant deficits of speech development. Some @entity1 also manifested behavioral disturbances such as @entity2915 and @entity71 . Lymphoblastic cell lines from @entity1 show markedly elevated levels of @entity37923 , @entity6631 and @entity24437 , transcripts consistent with the extent of their CNVs. The duplicated region in our @entity1 contains several genes known to escape X-inactivation, including @entity6631 , @entity49548 and @entity24437 . In silico analysis of expression data in selected gene expression omnibus series indicates that dosage of these genes, especially @entity49548 , is similar in males and females despite the fact they escape from X-inactivation in females. Taken together, the data suggest that gains in Xp11.22 including @entity49548 cause @entity717 and are associated with @entity2915 and @entity71 , and are likely to be dosage-sensitive in males.European Journal of @entity1 Genetics advance online publication, 10 June 2015; doi:10.1038/ejhg.2015.123.
