@article{acc8eadea63d429288918571853f6d18,
title = "Rare A2ML1 variants confer susceptibility to otitis media",
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.",
author = "Santos-Cortez, {Regie Lyn P.} and Chiong, {Charlotte M.} and Reyes-Quintos, {Ma Rina T.} and Tantoco, {Ma Leah C.} and Xin Wang and Anushree Acharya and Izoduwa Abbe and Giese, {Arnaud P.} and Smith, {Joshua D.} and Allen, {E. Kaitlynn} and Biao Li and {Cutiongco-De La Paz}, {Eva Maria} and Garcia, {Marieflor Cristy} and Llanes, {Erasmo Gonzalo D.V.} and Labra, {Patrick John} and Gloria-Cruz, {Teresa Luisa I.} and Chan, {Abner L.} and Wang, {Gao T.} and Daly, {Kathleen A.} and Jay Shendure and Bamshad, {Michael J.} and Nickerson, {Deborah A.} and Patel, {Janak A.} and Saima Riazuddin and Sale, {Michele M.} and Tasnee Chonmaitree and Ahmed, {Zubair M.} and Abes, {Generoso T.} and Leal, {Suzanne M.}",
note = "Funding Information: We are very grateful to the indigenous community, families and individuals who participated in this study. We also thank M. Pedro, S.M. Lagrana, V. Ostan, and the surgical residents and audiology students who assisted in data collection and J. Belmont and S. Lalani for overall support. This study was supported by the Hearing Health Foundation, Action On Hearing Loss and the National Organization for Hearing Research Foundation (to R.L.P.S.-C.); the University of the Philippines Manila–National Institutes of Health (to G.T.A. and R.L.P.S.-C.); and US National Institutes of Health grants U54 HG006493 (to D.A.N.), R01 DK084350 (to M.M.S.), R01 DC003166 (to K.A.D.), R01 DC005841 (to T.C.), R01 DC011803 and R01 DC012564 (to S.R. and Z.M.A.), and R01 DC011651 and R01 DC003594 (to S.M.L.). Publisher Copyright: {\textcopyright} 2015 Nature America, Inc.",
year = "2015",
month = aug,
day = "30",
doi = "10.1038/ng.3347",
language = "English (US)",
volume = "47",
pages = "917--920",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "8",
}