Molecular characterization of XXXX including a distinct aniridic phenotype.

@entity1 @entity16183 @entity72868 @entity1539 @entity20195 @entity29713 @entity1347 @entity4188 @entity6716 @entity726 @entity72867 @entity72869 @entity26681 @entity6484 @entity17967 @entity72866
PURPOSE: To characterize the underlying genetic defect in otherwise healthy Saudi newborns with @entity26681 , including those with @entity1539 . METHODS: Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had @entity4188 sequencing. Selected @entity1 with visible @entity1539 had @entity6484 , @entity17967 , and @entity20195 sequencing. @entity4188 -negative @entity1 had @entity29713 sequencing. RESULTS: All 67 probands had corneal enlargement with variable haze/scarring evident to caregivers at birth; 46 had a family history of infantile or early @entity726 . All families were consanguineous except for 6, 2 of which were endogamous. Eight probands had mild ectropion uveae with partial @entity6716 ; 2 probands had thick scarred corneas that precluded careful iris examination. Homozygous or compound heterozygous @entity4188 mutations were identified in 91% (61/67), including all 8 probands with ectopion uveae and partial @entity6716 . The common Saudi mutation @entity16183 occurred in most cases (38 homozygous, 8 compound heterozygous). Four novel mutations were identified ( @entity72866 , @entity72867 , @entity72868 , @entity72869 ). No mutations were identified in the other screened genes. CONCLUSIONS: Newborn @entity726 on the Arabian Peninsula is typically @entity4188 -related even in the setting of @entity1539 . Mild iris ectropion with partial @entity6716 in a newborn with @entity726 suggests mutations in @entity4188 rather than in other genes associated with @entity1347 . On the Arabian Peninsula @entity16183 mutations are the major cause of @entity726 but novel @entity4188 mutations continue to be documented. The fact that the 9% of cases that were @entity4188 -negative did not have mutations in @entity29713 suggests that there exists at least 1 additional locus for this condition.
