Mutation analysis of two families with XXXX .

@entity1 @entity11300 @entity231 @entity72973 @entity11305 @entity29337 @entity3689 @entity72972 @entity72971
UNASSIGNED: The present study aimed to identify the genetic mutations in two families affected with @entity231 . Detailed family histories and clinical data of the family members were recorded. The family members with affected phenotypes were recruited, and candidate gene sequencing was performed to determine the disease  -causing mutation. Bioinformatics analysis was performed to predict the function of the mutant gene. Green fluorescent protein  -tagged @entity1 wild  -type @entity11300 and @entity11305 were sub  -cloned, and the mutants were generated by site  -directed mutagenesis. A novel mutation, @entity72971 ( @entity72972 ), in @entity11300 and a known mutation, @entity72973 ( @entity29337 ), in @entity11305 were identified. These mutations co  -segregated with all affected individuals in each family and were not observed in the unaffected family members or in unrelated controls. The results of the bioinformatics analysis indicated that the @entity3689 at position 139 was highly conserved and that the @entity72972 mutation was predicted to be damaging, as with @entity29337 . Finally, overexpression of the two mutants revealed marked alterations, compared with the wild  -type proteins. These results extend the mutation spectrum of @entity11300 and provides further evidence that the @entity29337 mutation in @entity11305 is a hot-spot mutation.
