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Last Posted: Mar 07, 2023
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Implementation of Population-Based Genetic Testing of Newborn Infants for Prediction of Hearing Loss in Ontario, Canada
CDC Webinar, April 19, 2023 Brand

In 2019, Newborn Screening Ontario launched a novel screening approach for genetic permanent hearing loss (PHL) risk involving universal testing of newborn dried blood spots for a panel of penetrant GJB2 and SLC26A4 variants associated with congenital or very early onset PHL. In July 2020, the less penetrant and relatively frequent GJB2 V37I variant was added to the panel. Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5.

Rare-variant association analysis reveals known and new age-related hearing loss genes
DMC Sanchez et al, EJHG, February 15, 2023

We analyzed exome and imputed data from white-European UK Biobank volunteers, performing both single-variant and rare-variant aggregate association analyses using self-reported ARHL phenotypes. We identified and replicated associations between ARHL and rare-variants in KLHDC7B, PDCD6, MYO6, SYNJ2, and TECTA. PUS7L and EYA4 also revealed rare-variant associations with ARHL. EYA4, MYO6, and TECTA are all known to underline Mendelian nonsyndromic HL. PDCD6, a new HL gene, plays an important role in apoptosis and has widespread inner ear expression, particularly in the inner hair cells.

Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children.
Jing Wang et al. JAMA otolaryngology-- head & neck surgery 2023 1

This population-based cross-sectional study, including 1608 children and 1642 adults, nested within the Longitudinal Study of Australian Children found that in contemporaneous population-based samples, PRSs computed from self-reported hearing difficulty in 40- to 69-year-old adults showed some evidence of association with hearing ability in 11- to 12-year-olds and their parents, but minimal evidence of associations with speech reception ability.

Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson Ryan J et al. JAMA otolaryngology-- head & neck surgery 2023 1

n this cross-sectional study of 449 children with SNHL, genomic sequencing identified a genetic cause of SNHL for more than 50% of affected children, with 43 genes involved. Cochlear implants were successful in all participants who underwent implant, but children with hearing loss due to deafness-causing alleles of TMPRSS3 and MITF had the best results on speech performance tests. The results suggest that genetic testing is a valuable prognostic tool for managing pediatric hearing loss and a predictor for cochlear implant outcomes.

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