Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.

ABSTRACT: The stereocilin (STRC) gene is a significant contributor to mild-to-moderate sensorineural hearing loss (SNHL), particularly in cases of biallelic STRC deletions and copy number alterations. Although pathogenic single nucleotide variants (SNVs) or small insertion-deletions (indels) have been investigated across the coding region of STRC, the pseudogene STRCP1, which shares 98% homology with the STRC gene, makes interpreting sequence data from this region challenging. To detect missing SNVs, targeted long-read sequencing was conducted using the nanopore MinION platform coupled with long-range polymerase chain reaction (PCR) enrichment on individuals exhibiting heterozygous STRC deletions and associated phenotypes. Sequencing results were obtained from 149 DNA samples. The median number of r

SUBMITTER: Moteki H 

PROVIDER: S-EPMC12722244 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature