INTRODUCTION: @entity4712 is caused by mutations in genes encoding @entity1413 . About 85% of the pathogenic variants is found in @entity794 (Stickler type 1), whereas a minority of mutations has been reported in @entity28942 (Stickler type 2) and @entity9190 (Stickler type 3). Beside the typical skeletal and orofacial manifestations, @entity735 are predominantly present in type 1 and type 2, while @entity393 is more pronounced in type 2 and type 3. METHODS: We performed @entity28942 mutation analysis for 40 type 2 Stickler @entity1 and @entity9190 mutation analysis for five type 3 Stickler @entity1 , previously all @entity794 mutation-negative, using targeted next-generation sequencing (NGS) whereas whole-exome sequencing (WES) was performed in parallel for two @entity1 . Three @entity1 were analyzed for both genes due to unclear ocular findings. RESULTS: In total 14 @entity28942 and two @entity9190 mutations could be identified, seven of which are novel. Splice site alterations are the most frequent mutation type, followed by @entity2228 substitutions. In addition, six variants of unknown significance (VUS) have been found. Identical mutations and variants were identified with both NGS techniques. CONCLUSION: We expand the mutation spectrum of @entity28942 and @entity9190 in @entity4712 @entity1 and show that targeted NGS is an efficient and cost-effective molecular tool in the genetic diagnosis of @entity4712 , whereas the more standardized WES might be an alternative approach.

Novel pathogenic @entity28942 / XXXX variants in @entity4712 detected by targeted NGS and exome sequencing.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity28942 :: ('1301', 'Gene') :: ['COL11A1'] @entity2228 :: ('CHEBI:57305', 'Chemical') :: ['glycine'] @entity4712 :: ('MESH:C580472', 'Disease') :: ['Stickler syndrome'] @entity794 :: ('1280', 'Gene') :: ['COL2A1'] @entity735 :: ('MESH:D005124', 'Disease') :: ['ocular anomalies'] @entity9190 :: ('1302', 'Gene') :: ['COL11A2'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss'] @entity1413 :: ('MESH:D003095', 'Disease') :: ['type II and type XI collagens']
@entity9190 :: (1302,Gene) :: ['COL11A2']
