Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

A novel genetic variant within SPINK5 was identified in an indigenous population that has a high prevalence of otitis media (middle ear infections). Although SPINK5 was previously associated with a syndromic disease with predominant skin and hair abnormalities, the individuals who carry the novel SPINK5 variant had non-syndromic otitis media. Our findings are further supported by tissue expression and bacterial studies, and additional SPINK5 variants from individuals of different ethnic background who also have otitis media. These findings add to the growing knowledge base for genetic diagnosis and for repurposing of known treatments for diseases due to rare variants. (By Dr. Regie Lyn Santos-Cortez, https://jmg.bmj.com/content/early/2020/07/24/jmedgenet-2020-106844 )

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