Rare A2ML1 variants confer susceptibility to otitis media

A duplication variant within middle-ear-specific gene A2ML1 co-segregates 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 three otitis-prone European- and Hispanic-American children, but is absent i...

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Autores principales: Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Reyes-Quintos, Ma. Rina T., Tantoco, Ma. Leah C., Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Giese, Arnaud P., Smith, Joshua D., Allen, E. Kaitlynn, Li, Biao, Cutiongco-de la Paz, Eva Maria, Garcia, Marieflor Cristy, Llanes, Erasmo Gonzalo D.V., Labra, Patrick John, Gloria-Cruz, Teresa Luisa I., Chan, Abner L., Wang, Gao T., Daly, Kathleen A., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Patel, Janak A., Riazuddin, Saima, Sale, Michele M., Chonmaitree, Tasnee, Ahmed, Zubair M., Abes, Generoso T., Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528370/
https://www.ncbi.nlm.nih.gov/pubmed/26121085
http://dx.doi.org/10.1038/ng.3347
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author Santos-Cortez, Regie Lyn P.
Chiong, Charlotte M.
Reyes-Quintos, Ma. Rina T.
Tantoco, Ma. Leah C.
Wang, Xin
Acharya, Anushree
Abbe, Izoduwa
Giese, Arnaud P.
Smith, Joshua D.
Allen, E. Kaitlynn
Li, Biao
Cutiongco-de la Paz, Eva Maria
Garcia, Marieflor Cristy
Llanes, Erasmo Gonzalo D.V.
Labra, Patrick John
Gloria-Cruz, Teresa Luisa I.
Chan, Abner L.
Wang, Gao T.
Daly, Kathleen A.
Shendure, Jay
Bamshad, Michael J.
Nickerson, Deborah A.
Patel, Janak A.
Riazuddin, Saima
Sale, Michele M.
Chonmaitree, Tasnee
Ahmed, Zubair M.
Abes, Generoso T.
Leal, Suzanne M.
author_facet Santos-Cortez, Regie Lyn P.
Chiong, Charlotte M.
Reyes-Quintos, Ma. Rina T.
Tantoco, Ma. Leah C.
Wang, Xin
Acharya, Anushree
Abbe, Izoduwa
Giese, Arnaud P.
Smith, Joshua D.
Allen, E. Kaitlynn
Li, Biao
Cutiongco-de la Paz, Eva Maria
Garcia, Marieflor Cristy
Llanes, Erasmo Gonzalo D.V.
Labra, Patrick John
Gloria-Cruz, Teresa Luisa I.
Chan, Abner L.
Wang, Gao T.
Daly, Kathleen A.
Shendure, Jay
Bamshad, Michael J.
Nickerson, Deborah A.
Patel, Janak A.
Riazuddin, Saima
Sale, Michele M.
Chonmaitree, Tasnee
Ahmed, Zubair M.
Abes, Generoso T.
Leal, Suzanne M.
author_sort Santos-Cortez, Regie Lyn P.
collection PubMed
description A duplication variant within middle-ear-specific gene A2ML1 co-segregates 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 three otitis-prone European- and Hispanic-American children, but is absent in non-otitis-prone children and >62,000 next-generation sequences. Seven additional A2ML1 variants were identified in six otitis-prone children. Collectively our studies support a role for A2ML1 in the pathophysiology of otitis media.
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spelling pubmed-45283702016-01-31 Rare A2ML1 variants confer susceptibility to otitis media Santos-Cortez, Regie Lyn P. Chiong, Charlotte M. Reyes-Quintos, Ma. Rina T. Tantoco, Ma. Leah C. Wang, Xin Acharya, Anushree Abbe, Izoduwa Giese, Arnaud P. Smith, Joshua D. Allen, E. Kaitlynn Li, Biao Cutiongco-de la Paz, Eva Maria Garcia, Marieflor Cristy Llanes, Erasmo Gonzalo D.V. Labra, Patrick John Gloria-Cruz, Teresa Luisa I. Chan, Abner L. Wang, Gao T. Daly, Kathleen A. Shendure, Jay Bamshad, Michael J. Nickerson, Deborah A. Patel, Janak A. Riazuddin, Saima Sale, Michele M. Chonmaitree, Tasnee Ahmed, Zubair M. Abes, Generoso T. Leal, Suzanne M. Nat Genet Article A duplication variant within middle-ear-specific gene A2ML1 co-segregates 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 three otitis-prone European- and Hispanic-American children, but is absent in non-otitis-prone children and >62,000 next-generation sequences. Seven additional A2ML1 variants were identified in six otitis-prone children. Collectively our studies support a role for A2ML1 in the pathophysiology of otitis media. 2015-06-29 2015-08 /pmc/articles/PMC4528370/ /pubmed/26121085 http://dx.doi.org/10.1038/ng.3347 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Santos-Cortez, Regie Lyn P.
Chiong, Charlotte M.
Reyes-Quintos, Ma. Rina T.
Tantoco, Ma. Leah C.
Wang, Xin
Acharya, Anushree
Abbe, Izoduwa
Giese, Arnaud P.
Smith, Joshua D.
Allen, E. Kaitlynn
Li, Biao
Cutiongco-de la Paz, Eva Maria
Garcia, Marieflor Cristy
Llanes, Erasmo Gonzalo D.V.
Labra, Patrick John
Gloria-Cruz, Teresa Luisa I.
Chan, Abner L.
Wang, Gao T.
Daly, Kathleen A.
Shendure, Jay
Bamshad, Michael J.
Nickerson, Deborah A.
Patel, Janak A.
Riazuddin, Saima
Sale, Michele M.
Chonmaitree, Tasnee
Ahmed, Zubair M.
Abes, Generoso T.
Leal, Suzanne M.
Rare A2ML1 variants confer susceptibility to otitis media
title Rare A2ML1 variants confer susceptibility to otitis media
title_full Rare A2ML1 variants confer susceptibility to otitis media
title_fullStr Rare A2ML1 variants confer susceptibility to otitis media
title_full_unstemmed Rare A2ML1 variants confer susceptibility to otitis media
title_short Rare A2ML1 variants confer susceptibility to otitis media
title_sort rare a2ml1 variants confer susceptibility to otitis media
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528370/
https://www.ncbi.nlm.nih.gov/pubmed/26121085
http://dx.doi.org/10.1038/ng.3347
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