Rare A2ML1 variants confer susceptibility to otitis media
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Updated: Apr 8, 2026

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Published on: August 15, 2019
Regie Lyn P Santos-Cortez1, Charlotte M Chiong2, Ma Rina T Reyes-Quintos2
1Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Abstract:
A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.
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