Causal variants identified in 43 genes; almost all children had causative variant(s) in only one gene
By Elana Gotkine HealthDay Reporter
TUESDAY, Jan. 17, 2023 (HealthDay News) — For children with bilateral sensorineural hearing loss, genomic sequencing yielded genetic diagnoses for most families, according to a study published online Jan. 12 in JAMA Otolaryngology-Head & Neck Surgery.
Ryan J. Carlson, Ph.D., from the University of Washington in Seattle, and colleagues conducted a cross-sectional analysis and retrospective cohort analysis involving 449 children from 406 families with bilateral sensorineural hearing loss with an onset age of younger than 18 years.
The researchers found that genetic diagnoses were yielded for 210 of 406 families (52 percent) in a genomic analysis, including 55 of 82 multiplex families and 155 of 324 singleton families (67 and 48 percent, respectively). 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, TMPRSS3, or severe loss-of-function variants in GJB2, with losses of more than 10 dB per decade. Outcomes of adult speech perception tests were greater than preimplanted levels for all children with cochlear implants; the degree of success varied by genotype. Speech perception was highest for children with hearing loss due to MITF or TMPRSS3.
“Comprehensive genetic testing of children with sensorineural hearing loss is informative, medically necessary, and should be incorporated into standard care whenever possible,” the authors write.
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