Rare A2ML1 variants confer susceptibility to otitis media.
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ABSTRACT:
SUBMITTER: Santos-Cortez RL
PROVIDER: S-EPMC4528370 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Publications
Rare A2ML1 variants confer susceptibility to otitis media.
Santos-Cortez Regie Lyn P RL Chiong Charlotte M CM Reyes-Quintos Ma Rina T MR Tantoco Ma Leah C ML Wang Xin X Acharya Anushree A Abbe Izoduwa I Giese Arnaud P AP Smith Joshua D JD Allen E Kaitlynn EK Li Biao B Cutiongco-de la Paz Eva Maria EM Garcia Marieflor Cristy MC Llanes Erasmo Gonzalo D V EG Labra Patrick John PJ Gloria-Cruz Teresa Luisa I TL Chan Abner L AL Wang Gao T GT Daly Kathleen A KA Shendure Jay J Bamshad Michael J MJ Nickerson Deborah A DA Patel Janak A JA Riazuddin Saima S Sale Michele M MM Chonmaitree Tasnee T Ahmed Zubair M ZM Abes Generoso T GT Leal Suzanne M SM
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]
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