For children with bilateral sensorineural hearing loss, genomic sequencing yielded genetic diagnoses for most families, according to a study published in JAMA Otolaryngology-Head & Neck Surgery. Ryan Carlson, PhD, and colleagues examined 449 children from 406 families with bi-lateral sensorineural hearing loss (age at onset, <18). Genetic diagnoses were generated for 210 of 406 families (52%). Children of all ancestries had
similar rates of genetic diagnosis. Causal variants were identified in 43 genes; with one exception, each child had causative variant(s) in only one gene. There was variation observed by gene, and for some genes by genotype within gene, for hearing loss severity, affected frequencies, and progression. Hearing loss was progressive for children with causative mutations in MYO6, OTOA, SLC26A4, and TMPRSS3 or severe loss-of-function variants in GJB2. Outcomes of adult speech perception tests were greater than pre-implant levels for all children with cochlear implants.
