Purpose.: @entity16282 ( @entity16282 ) is a @entity245 characterized by @entity739 , agenesis of the @entity6789 , and chorioretinal lacunae. Variation in phenotype and disease severity is well documented, but chorioretinal lacunae represent the most constant pathological feature. @entity16282 is believed to be an @entity1112 occurring almost exclusively in females, although 46, XY males with @entity16282 have been described. The purpose of this study is to identify genetic factors and pathways involved in @entity16282 . Methods.: We performed exome/genome sequencing of 10 @entity1 diagnosed with @entity16282 and their parents and performed RNA sequencing on blood samples from nine cases, their parents, and unrelated controls. Results.: We identified a de novo mutation in autosomal gene @entity9220 , expressed in the retina and brain, in a @entity1 with @entity16282 . Mutations in @entity9220 have previously been associated with Sveinsson's @entity5066 , characterized by @entity528 . This demonstrates that @entity9220 mutations can lead to different @entity6519 . In addition, we found that altered expression of genes associated with synaptic plasticity, neuronal development, retinal development, and cell cycle control/apoptosis is an important underlying potential pathogenic mechanism shared among cases. Last, we found a case with skewed X inactivation, supporting the idea that nonrandom X inactivation might be important in @entity16282 . Conclusions.: We expand the phenotype of @entity9220 mutations, demonstrate its importance in @entity6519 , and propose the first putative pathogenic mechanisms underlying @entity16282 . Our data suggest that @entity16282 is a genetically heterogeneous disease and is not restricted to the X chromosome, and that @entity9220 mutations may be present in male @entity1 .

A De Novo Mutation in XXXX Causes @entity1112 .

@entity1 :: ('9606', 'Species') :: ['children', 'patients', 'patient'] @entity5066 :: ('MESH:C566236', 'Disease') :: ['chorioretinal atrophy'] @entity16282 :: ('MESH:D058540', 'Disease') :: ['AIC', 'Aicardi syndrome'] @entity9220 :: ('7003', 'Gene') :: ['TEAD1'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked-dominant disorder'] @entity245 :: ('MESH:D002658', 'Disease') :: ['congenital neurodevelopmental disorder'] @entity739 :: ('MESH:D013036', 'Disease') :: ['infantile spasms'] @entity6519 :: ('MESH:D002825', 'Disease') :: ['chorioretinal complications'] @entity6789 :: ('MESH:D061085', 'Disease') :: ['corpus callosum'] @entity528 :: ('MESH:D009410', 'Disease') :: ['chorioretinal degeneration']
@entity9220 :: (7003,Gene) :: ['TEAD1']
