Ontology highlight
ABSTRACT:
SUBMITTER: Santos-Cortez RL
PROVIDER: S-EPMC4528370 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Nature genetics 20150629 8
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 A2ML ...[more]