Point mutations and genomic deletions of the @entity8026 ( @entity8026 ) gene on chromosome Xp22 have been reported in @entity1 with severe @entity16 , including @entity6694 . To date, only larger-sized (8-21   Mb) duplications harboring @entity8026 have been described. We report seven females and four males from seven unrelated families with @entity8026 duplications 540-935   kb in size. Three families of different ethnicities had identical 667kb duplications containing only the shorter @entity8026 isoform. Four affected @entity1 , 8-14 years of age, and three affected @entity1 , 6-8 years of age, manifested @entity146 , @entity245 , @entity73 , and @entity2915 . Of note, two @entity1 and one @entity1 had @entity4651 . Two carrier mothers of the affected @entity1 reported a history of problems with learning and mathematics while at school. None of the @entity1 had @entity302 . Similarly to @entity8026 mutations and deletions, the X-inactivation pattern in all six studied females was random. We hypothesize that the increased dosage of @entity8026 might have affected interactions of this kinase with its substrates, leading to perturbation of synaptic plasticity and learning, and resulting in @entity146 , developmental and @entity10791 , @entity2915 , and @entity4651 .European Journal of @entity1 Genetics advance online publication, 15 October 2014; doi:10.1038/ejhg.2014.217.

Neurodevelopmental and neurobehavioral characteristics in males and females with XXXX duplications.

@entity1 :: ('9606', 'Species') :: ['girl', 'patients', 'girls', 'Human', 'boys'] @entity146 :: ('MESH:D001523', 'Disease') :: ['autistic behavior'] @entity73 :: ('MESH:D003072', 'Disease') :: ['language impairment'] @entity6694 :: ('MESH:D015518', 'Disease') :: ['Rett-like disorders'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurodevelopmental abnormalities'] @entity245 :: ('MESH:D002658', 'Disease') :: ['developmental delay'] @entity2915 :: ('MESH:D006948', 'Disease') :: ['hyperactivity'] @entity10791 :: ('MESH:D007805', 'Disease') :: ['speech delay'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epilepsy'] @entity8026 :: ('6792', 'Gene') :: ['CDKL5', 'STK9'] @entity4651 :: ('MESH:D058627', 'Disease') :: ['macrocephaly']
@entity8026 :: (6792,Gene) :: ['CDKL5']
