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Nat Genet ; 47(8): 917-20, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26121085

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.


Subject(s)
Gene Duplication , Genetic Predisposition to Disease/genetics , Otitis Media/genetics , alpha-Macroglobulins/genetics , Animals , Base Sequence , Child , Cochlea/metabolism , Cochlea/pathology , Exome/genetics , Family Health , Female , Gene Frequency , Genotype , Haplotypes , Humans , Male , Mice, Inbred C57BL , Models, Molecular , Otitis Media/pathology , Pedigree , Principal Component Analysis , Protein Conformation , Sequence Analysis, DNA , alpha-Macroglobulins/chemistry
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