Rare A2ML1 variants confer susceptibility to otitis media

Regie Lyn P. Santos-Cortez, Charlotte M. Chiong, Ma Rina T. Reyes-Quintos, Ma Leah C. Tantoco, Xin Wang, Anushree Acharya, Izoduwa Abbe, Arnaud P. Giese, Joshua D. Smith, E. Kaitlynn Allen, Biao Li, Eva Maria Cutiongco-De La Paz, Marieflor Cristy Garcia, Erasmo Gonzalo D.V. Llanes, Patrick John Labra, Teresa Luisa I. Gloria-Cruz, Abner L. Chan, Gao T. Wang, Kathleen A. Daly, Jay ShendureMichael J. Bamshad, Deborah A. Nickerson, Janak A. Patel, Saima Riazuddin, Michele M. Sale, Tasnee Chonmaitree, Zubair M. Ahmed, Generoso T. Abes, Suzanne M. Leal

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)917-920
Number of pages4
JournalNature Genetics
Issue number8
StatePublished - Aug 30 2015

ASJC Scopus subject areas

  • Genetics


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