Features include always present findings: Hearing loss (hearing impairment).

Age of onset: childhood.

EPS8L2 encodes EPS8 signaling adaptor L2 (715 aa). Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells Highest expression in Esophagus Mucosa (262.4 TPM) and Thyroid (184.2 TPM).

Hearing loss, autosomal recessive 106 is associated with mutations in the EPS8L2 gene on chromosome 11.

EPS8L2 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for EPS8L2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for hearing loss, autosomal recessive 106.

6 publications have been identified in PubMed for hearing loss, autosomal recessive 106. Research spans Case Report / Case Series (60%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Gan H (2026). [PMID: 41578500](https://pubmed.ncbi.nlm.nih.gov/41578500/). *Medicine (Baltimore)*. [Case Report / Case Series]

• Owrang D (2026). [PMID: 41514136](https://pubmed.ncbi.nlm.nih.gov/41514136/). *Mol Neurobiol*. [Basic Science / Preclinical]

• Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]

• Perret AC (2025). [PMID: 41400044](https://pubmed.ncbi.nlm.nih.gov/41400044/). *Anim Genet*. [Case Report / Case Series]

• Serino M (2024). [PMID: 39288580](https://pubmed.ncbi.nlm.nih.gov/39288580/). *Sleep Med*. [Case Report / Case Series]