| First Author | Santos-Cortez RL | Year | 2015 |
| Journal | Nat Genet | Volume | 47 |
| Issue | 8 | Pages | 917-20 |
| PubMed ID | 26121085 | Mgi Jnum | J:259252 |
| Mgi Id | MGI:6141330 | Doi | 10.1038/ng.3347 |
| Citation | Santos-Cortez RL, et al. (2015) Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47(8):917-20 |
| abstractText | 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. |
