XXXX mutations explain a significant proportion of @entity27868 @entity23334 cases.

@entity1 @entity27868 @entity9718 @entity23334 @entity16 @entity508 @entity6447 @entity12429 @entity2055 @entity72409
UNASSIGNED: @entity6447 and @entity9718 are clinically and genetically heterogeneous and often overlapping @entity16 . Mutations in @entity12429 cause the @entity9718 ( @entity12429 ), but recent studies indicate that they are also one of the most common causes of @entity6447 . In Quebec, a significant number of @entity1 affected with @entity6447 and @entity508 remain without a molecular diagnosis. We performed whole-exome sequencing in three @entity27868 ( @entity27868 ) @entity1 affected with @entity23334 and uncovered compound heterozygous variants in @entity12429 in all three. Sanger sequencing of @entity12429 exons and exon/intron boundaries was used to screen additional @entity1 . In total, we identified recessive variants in @entity12429 in 22 @entity27868 @entity1 belonging to 12 families (38.7% of the families screened), including two novel variants. The @entity72409 variant was the most common in our cohort. Cerebellar features, including ataxia, were more pronounced than @entity508 in this cohort. These results strongly suggest that variants affecting the function of @entity12429 are the fourth most common form of @entity2055 in @entity27868 @entity1 . Thus, we propose that @entity12429 mutations explain a significant proportion of @entity27868 @entity23334 cases and that this gene should be considered in unresolved @entity1 .European Journal of @entity1 Genetics advance online publication, 2 December 2015; doi:10.1038/ejhg.2015.240.
