Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.

ABSTRACT: ImportanceThe genetic variation in patients with sensorineural hearing loss (SNHL) in the Nordic countries has not been previously reported.ObjectivesThe aim was to describe the genetic variation in a Swedish population and identify factors in favor of a high diagnostic yield.DesignThis was a prospective cohort study. Children with bilateral SNHL and adults with bilateral SNHL and clinically suspected genetic SNHL underwent genetic testing. A gene panel with ~200 genes was applied on whole genome sequencing (WGS) data. Variants were classified according to American College of Medical Genetics and Genomics criteria. Personal health data were extracted from medical records.Setting and ParticipantsEighty-five patients (aged 0-73 years) from Lund and Örebro University Hospitals, 2 tertiary ref

SUBMITTER: Elander J 

PROVIDER: S-EPMC12277553 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature