Novel pathogenic variants and genes for XXXX identified by whole exome sequencing.

@entity1 @entity4094 @entity908 @entity13868 @entity425 @entity102 @entity72147 @entity15317 @entity1159 @entity460 @entity38695 @entity121
@entity4094 ( @entity4094 ) account for a significant proportion of @entity1 and childhood mortality and devastating @entity102 . Determining the specific diagnosis of @entity4094 is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four unique childhood @entity121 cases characterized by relatively mild @entity425 , slowly progressing course, mildly elevated @entity908 phosphokinase (CPK), and @entity1159 . We also present two additional cases characterized by severe prenatal/neonatal @entity121 . Prior extensive genetic testing and histology of these cases did not reveal the genetic etiology of disease. Here, we applied whole exome sequencing (WES) and bioinformatics to identify likely causal pathogenic variants in each pedigree. In two cases, we identified novel pathogenic variants in @entity15317 . In a third case, we identified novel likely pathogenic variants in @entity72147 and @entity15317 . We identified a novel splice variant in EMD in a fourth case. Finally, we classify two cases as @entity460 channelopathies with identification of novel pathogenic variants in @entity13868 and @entity38695 . These are the first cases of @entity121 reported to be caused by variants in @entity72147 and @entity38695 . Our results demonstrate the utility and genetic diagnostic value of WES in the broad class of @entity4094 phenotypes.
