@entity8251 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in XXXX .

@entity1 @entity70862 @entity70863 @entity6694 @entity70864 @entity8251
This report describes molecular analysis of the @entity8251 gene in 37 Israeli @entity1 suspected of having @entity6694 ( @entity6694 ). The @entity1 were from various Jewish ethnic groups and from Arabic origin. Of the 17 @entity1 with classical @entity6694 , bi-directional sequencing of the coding exons revealed @entity8251 mutations in 14 @entity1 . About 66% of the mutations were located in previously described hot-spots. One case presented a novel mutation ( @entity70862 ). Mutation-negative @entity1 were further analyzed by Southern blot, which detected a novel gross rearrangement in another classical case. Altogether, detection rate in classical cases was 88%. In a non-classical case, a novel missense mutation ( @entity70863 ) was detected in an affected @entity1 and in her normal father, suggesting that this is a non-pathogenic alteration. Another variant ( @entity70864 ) was detected in an affected @entity1 and in her healthy mother and also in another affected @entity1 and her healthy father, suggesting that this variant too, is non-pathogenic. No significant difference in mutation type was noted among the different ethnic groups. In one familial case, the same mutation was detected in two sibs but not in their mother, suggesting germ-line mosaicism. Our results suggest that mutation-negative cases should be further assessed for gross rearrangements and that molecular analysis of the parents is often required when previously undescribed sequence alterations are detected.
