Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.
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Owrang D, et al.
Mol Neurobiol. 2026 Jan 10;63(1):354. doi: 10.1007/s12035-025-05615-9.
Mol Neurobiol. 2026.
PMID: 41514136
Free PMC article.
Functional analysis confirmed that the c.767C > G variant causes exon 9 skipping, leading to a frameshift r.701_768del, p.(Gly234Alafs*55). A shared 4.17 Mb homozygous region among two unrelated Iranian families with this variant suggested a founder effect. ...
Functional analysis confirmed that the c.767C > G variant causes exon 9 skipping, leading to a frameshift r.701_768del, p.(Gly234A …