Article
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.
Molecular neurobiology - 10 Jan 2026
Owrang Daniel, Rad Aboulfazl, Alerasool Masoome, Kolb Susanne M, Lin Sheng-Jia, Doll Julia, Alidadiani Neda, Ghaderi Shahrooz, Hofrichter Michaela A H, Maroofian Reza, Varshney Gaurav K, Mojarrad Majid, Bartsch Oliver, Haaf Thomas, Vona Barbara
Abstract excerpt
EPS8L2, encoding EPS8 signaling adaptor L2 protein, is critical for stereocilia maintenance in cochlear hair cells. Four previously published families have replicated autosomal recessive non-syndromic hearing loss (DFNB106), yet the mutational and clinical spectrum remains poorly described. This study expands the mutational and clinical spectrum of EPS8L2-associated hearing impairment by identifying five...
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