Screening of @entity4188 and @entity29713 genes in Saudi families with primary XXXX : genotype-phenotype correlation.

@entity1 @entity16183 @entity71998 @entity29713 @entity16191 @entity71994 @entity4188 @entity72001 @entity49968 @entity726 @entity72003 @entity71997 @entity71993 @entity72002 @entity72000 @entity71996 @entity10064 @entity71995 @entity71999
PURPOSE: Primary @entity10064 (PCG) is a severe form of @entity726 that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of @entity726 . Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of @entity71993 ( @entity4188 ) and @entity29713 ( @entity29713 ) mutations in a group of Saudi PCG @entity1 and attempted to correlate the mutation status with the disease severity. METHODS: Genomic DNA was collected from 54 unrelated Saudi PCG families (74 @entity1 ) who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in @entity4188 and @entity29713 by sequencing. We also examined the effect of mutations on the phenotype of @entity1 with PCG (phenotype-genotype correlation). RESULTS: Mutations in @entity4188 were identified in 41 (75.9%) of affected @entity1 . No mutation in @entity4188 was found in 13 (24.1%) affected @entity1 . We detected a total of 13 mutations: 9 missense mutations ( @entity16183 , @entity71994 , @entity16191 , @entity71995 , @entity71996 , @entity71997 , @entity71998 , @entity71999 , and @entity72000 ), 2 deletions ( @entity72001 and @entity72002 ), and 2 nonsense mutations ( @entity72003 and @entity49968 ). Two mutations, @entity71998 and @entity71996 , were novel. The @entity16183 mutation was by far the most common mutation detected. PCG cases with @entity4188 mutation(s) presented with a high degree of haze and greater cup/disc ratio than those with no mutation(s). Also, PCG cases with a mutation had higher post operative indices in terms of post operative haze and the need for anti- @entity726 medications. Additionally, the surgical success rate was higher 13/14 (92.9%) among cases without mutation than those with mutation 42/60 (70%). No mutation(s) were found in @entity29713 in any of the tested @entity1 . CONCLUSIONS: @entity4188 mutations are the predominant cause of PCG in the Saudi Arabian population with @entity16183 as the dominant disease-associated allele. PCG cases with a mutation had higher last postoperative visit indices in terms of postoperative haze and the need for anti- @entity726 medications. This will be a valuable parameter in predicting disease severity earlier on and might help in predicting the surgical outcome.
