期刊
NATURE GENETICS
卷 47, 期 8, 页码 917-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3347
关键词
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资金
- Hearing Health Foundation
- Action On Hearing Loss
- National Organization for Hearing Research Foundation
- University of the Philippines Manila-National Institutes of Health
- US National Institutes of Health [U54 HG006493, R01 DK084350, R01 DC003166, R01 DC005841, R01 DC011803, R01 DC012564, R01 DC011651, R01 DC003594]
- RNID [F27] Funding Source: researchfish
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 otitisprone 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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