Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

HIGHLIGHTS

  • who: . and colleagues from the University Catania, Italy have published the paper: Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing, in the Journal: (JOURNAL)
  • what: The authors propose a stepwise strategy including the detection of common deafness genes with multiplex PCR plus high-throughput sequencing, Sanger sequencing of GJB2 non-coding exon 1, MLPA of the STRC gene, and WES . This study showed that the prevalence of STRC homozygous deletions was 1.7% (17/1,025) in the overall population with hearing loss, and 4 . . .

     

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