Genotype/phenotype correlations in Arab XXXX with @entity827 .

@entity1 @entity827 @entity16502 @entity52014 @entity16500 @entity51049 @entity70926
OBJECTIVES: To study the phenotype/genotype correlations in Arab @entity1 with @entity827 ( @entity827 ). @entity1 AND METHODS: The study was performed in a 3-year period (February 1998-February 2001). @entity1 were seen in the pediatric @entity827 clinic of Jordan University Hospital, and the diagnosis of @entity827 was made according to published criteria. Screening for mutations was carried out by direct sequencing of the entire coding sequence of exon 10 and its donor splice site and by restriction endonuclease testing for mutations in exon 2. A total of 278 @entity1 with clinically positive @entity827 were screened. RESULTS: Of the 278 @entity1 , 50 (18%) had 2 mutations identified, and 76 (27%) other @entity1 had only 1 mutation identified. The 50 @entity1 with 2 mutations are the subject of this report. The @entity16502 / @entity16502 and the @entity16502 / @entity51049 and @entity16500 / @entity16500 genotypes were the most common (30%, 16%, and 14%, respectively). Three homozygous genotypes ( @entity16502 / @entity16502 , @entity51049 / @entity51049 , and @entity16500 / @entity16500 ) and 2 compound heterozygous genotypes ( @entity16502 / @entity51049 and @entity51049 / @entity52014 ) accounted for 78% of mutations. The difference in the mean severity score (14 +/- 2) of the @entity16502 / @entity16502 group and the @entity51049 / @entity51049 (mean severity score, 10 +/- 3) and @entity16500 /M6941 (mean severity score, 6 +/- 1) groups was statistically significant (P =.003 and.0, respectively). The difference between the @entity70926 / @entity16502 group and the @entity16502 / @entity51049 (mean severity score, 15 +/- 2) was not statistically significant (P = 0.31). CONCLUSIONS: The genotypes @entity16502 / @entity16502 and @entity16502 / @entity51049 have a severe clinical course in Arab @entity1 with @entity827 , whereas the @entity16500 / @entity16500 is associated with mild disease.
