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Introduction: This preliminary study identified a missense variant in
ACTG1 (NM_001614.5) in a family with autosomal dominant non-syndromic
hearing loss (ADNSHL). The responsiveness of the electrically stimulated
cochlear nerve (CN) in two implanted participants with this missense
change was also evaluated and reported. Methods: Genetic testing was done
using a custom capture panel (MiamiOtoGenes) and whole exome sequencing.
The responsiveness of the electrically-stimulated CN was evaluated in two
members of this family (G1 and G4) using the electrically evoked compound
action potential (eCAP). eCAP results from these two participants were
compared with those measured three implanted patient populations: children
with cochlear nerve deficiency, children with idiopathic hearing loss and
normal-sized cochlear nerves, and postlingually deafened adults. Results:
Sequencing of ACTG1 identified a missense c.737A>T (p. Gln246Leu)
variant in ACTG1 (NM_001614.5) which is most likely the genetic cause of
ADNSHL in this family. eCAP results measured in these two participants
showed substantial variations. Discussion: The results indicated the
missense c.737A>T (p. Gln246Leu) variant in ACTG1 (NM_001614.5)
co-segregated with hearing loss in this family. The responsiveness of the
electrically-stimulated CN can vary among patients with the same genetic
variants, which suggests the importance of evaluating the functional
status of the CN for individual CI patients.
118 views reported since publication in 2023.