XXXX , @entity16874 , and @entity193 screening identifies novel splice site mutation in @entity192 and two novel @entity16874 mutations.

@entity1 @entity16874 @entity72461 @entity15098 @entity192 @entity191 @entity72463 @entity193 @entity72462 @entity38784
We present results of mutation screening of @entity192 gene in 93 Iranian @entity191 ( @entity191 ) @entity1 with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi-quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription-polymerase chain reaction (RT-PCR). Nine different @entity192 mutations were found. One of these, @entity38784 , affects splicing and is novel. Two mutated @entity192 alleles were observed in each of 6 @entity1 whose average AAO was 25.7 years. Only 1 @entity1 carried a single mutated allele and his AAO was 41 years. Among @entity1 with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a @entity192 mutation. Analysis of @entity192 by RT-PCR led to identification of a novel exon expressed in leukocytes of control and @entity191 individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ-I and @entity193 were also screened. Two novel @entity16874 mutations, @entity72461 affecting splicing and @entity72462 causing @entity72463 , were observed among @entity1 with AAO of <31 years, suggesting that @entity191 in a high fraction (>12%) of this group of Iranian @entity1 may be due to mutations in @entity16874 . Mutations in @entity193 were not observed. Our results complement previous findings on @entity15098 mutations among Iranian @entity191 @entity1 .
