A study on MYO7A-associated hearing loss presenting with low-frequency hearing loss has been published !
- Shin-ya Nishio
- 1 day ago
- 1 min read
The MYO7A gene is known to be responsible for three disorders: autosomal dominant nonsyndromic hearing loss (DFNA11), autosomal recessive nonsyndromic hearing loss (DFNB2), and Usher syndrome type 1B (USH1B).
Most cases of DFNA11 associated with the MYO7A gene typically present with progressive high-frequency hearing loss. However, our study demonstrated that certain variants can cause low-frequency hearing loss, and these findings have been reported in a scientific paper.
Based on the analysis of 18,475 Japanese patients with hearing loss, we identified cases of MYO7A-associated hearing loss and further discovered five variants associated with low-frequency hearing loss. Among these, the p.Leu479Pro variant was found relatively frequently in Japanese patients with hearing loss and was shown to represent a founder mutation derived from a common ancestor.
A: Average hearing thresholds of variants associated with low-frequency hearing loss (five variants). B: Average hearing thresholds of other MYO7A variants
Koizumi H, Nishio SY, Usami SI; Deafness Gene Study Consortium.
Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant MYO7A-Associated Hearing Loss Patients.
Genes (Basel). 2026;17(3):314.
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