Ocular and neurodevelopmental features of @entity1555 : a signature of XXXX function in the central nervous system.

@entity1 @entity66 @entity73 @entity245 @entity1555 @entity50533 @entity4714
UNASSIGNED: Multiple isoforms of @entity4714 (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for @entity73 , electroretinogram (ERG) @entity66 in @entity1555 ( @entity1555 ). We studied the ocular characteristics and neuropsychiatric profile of 16 @entity1555 @entity1 . The ISCEV standard, full-field flash ERGs were assessed. Intellectual ability and behavioural disturbances were measured. All genotypes were associated with mildly abnormal photopic ERG a:b-wave amplitude ratios. In addition, we identified the following genotype/phenotype correlations: @entity1 with mutations upstream of exon 30 (ie, isolated Dp427 altered expression) showed normal scotopic a:b ratios, abnormal photopic oscillatory potential @entity50533 and normal scotopic @entity50533 . Conversely, all @entity1 with @entity1555 mutations downstream of exon 30 showed profoundly 'negative' scotopic ERGs (a:b ratios >1). In these @entity1 , the involvement of Dp260 isoform resulted in the absence of slow rod pathway signalling in15   Hz scotopic flicker ERGs. These @entity1 had abnormal scotopic @entity50533 and normal photopic @entity50533 . Finally, @entity1 with mutations also affecting Dp71 were associated with more pronounced electronegative ERGs. When correlating ERGs to neurodevelopmental outcome, we found a positive correlation between negative scotopic ERGs and @entity245 , and the most severe findings were in @entity1 with Dp71 disruption. These findings suggest a strong association between @entity1555 mutations affecting different @entity1555 isoforms with characteristically abnormal scotopic ERGs and severe @entity245 . The role of the ERG as a potential biomarker for @entity4714 function in the CNS and response to novel genetic therapies warrants further exploration.European Journal of @entity1 Genetics advance online publication, 17 June 2015; doi:10.1038/ejhg.2015.135.
