UNASSIGNED: @entity5108 is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of @entity1897 , the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with @entity5108 / @entity1897 . We validated this diagnostic tool by first testing 11 @entity1 with pathological mutations. A cohort of 33 affected subjects was selected for this study. The @entity29120 @entity69289 mutation was detected in two cases; novel changes and/or variants with low frequency (<1%) were found in 12 cases. There were no candidate variants in 18 cases, and amplification failed for one sample. The @entity29120 @entity69289 mutation was also detected in three additional families. On haplotype analysis, all of the @entity1 from these five families shared the same haplotype; therefore, the @entity29120 @entity69289 mutation may be a founder event. Our gene panel allowed us to perform a very rapid and cost-effective screening of genes involved in @entity5108 / @entity1897 . Our diagnostic strategy was robust in terms of both coverage and read depth for all of the genes and @entity1 samples. These findings demonstrate the difficulty in achieving a definitive molecular diagnosis because of the complexity of interpreting new variants and the genetic heterogeneity that is associated with these @entity16 .

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of @entity5108 and XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity5108 :: ('MESH:D002607', 'Disease') :: ['Charcot-Marie-Tooth disease'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neuropathies'] @entity69289 :: ('c|SUB|G|352+1|A', 'DNAMutation') :: ['c.352+1G>A'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['hereditary motor neuropathy'] @entity29120 :: ('3300', 'Gene') :: ['DNAJB2']
@entity1897 :: (MESH:D010523,Disease) :: ['Hereditary Motor Neuropathy']
