New recurrent XXXX mutations in Polish @entity1 with @entity5344 detected by next generation sequencing.

@entity1 @entity5344 @entity71861 @entity5345 @entity2674 @entity71862 @entity6069 @entity71863 @entity4334 @entity71860
BACKGROUND: Targeted PCR-based genetic testing for @entity5345 and @entity2674 can be performed at a lower cost than full gene testing; however, it does not detect mutations responsible for @entity5344 . In the present study, we report the utility of next generation sequencing (NGS) to identify new pathogenic variants of @entity6069 . METHODS: @entity5345 and @entity2674 exons were amplified using the Ion AmpliSeq @entity6069 Panel and sequenced on the Ion Torrent PGM sequencer in 512 @entity1 with familial and/or only early onset @entity5344 who were negative for selected @entity5345 /2 mutations. RESULTS: 146 single @entity4334 variants (SNVs) and 32 indels were identified. Of them, 14 SNVs and 17 indels were considered as pathogenic or likely pathogenic. One and 18 pathogenic mutations had been detected previously in the Polish and other populations, respectively, and 12 deleterious mutations were previously unknown. Eight mutations were recurrent; @entity71860 ( @entity5345 ), N3124I ( @entity2674 ) and @entity71861 ( @entity5345 ) were found in eight, six and four @entity1 , respectively, and two other mutations ( @entity71862 and @entity71863 in @entity2674 ) were detected in three @entity1 each. Altogether, @entity6069 pathogenic mutations were identified in 52 out of 512 (10%) @entity1 . CONCLUSIONS: NGS substantially improved the detection rates of a wide spectrum of mutations in Polish @entity1 with @entity5344 . Although targeted screening for specific @entity5345 mutations can be offered to all Polish @entity5344 @entity1 , NGS-based testing is justified in @entity1 with @entity5344 likely related to @entity6069 who test negative for the selected @entity5345 /2 pathogenic mutations.
