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Otitis media is a common reason for hearing loss, especially in children. Otitis media is a multifactorial disease and environmental factors, anatomic dysmorphology and genetic predisposition can all contribute to its pathogenesis. However, the reasons for the variable susceptibility to otitis media are elusive.  MCPH1  mutations cause primary microcephaly in humans. So far, no hearing impairment has been reported either in the  MCPH1  patients or mouse models with  Mcph1  deficiency. In this study,  Mcph1 -deficient ( Mcph1 tm1a    / tm1a  ) mice were produced using embryonic stem cells with a targeted mutation by the Sanger Institute's Mouse Genetics Project. Auditory brainstem response measurements revealed that  Mcph1 tm1a    / tm1a   mice had mild to moderate hearing impairment with around 70% penetrance. We found otitis media with effusion in the hearing-impaired  Mcph1 tm1a    / tm1a   mice by anatomic and histological examinations. Expression of Mcph1 in the epithelial cells of middle ear cavities supported its involvement in the development of otitis media. Other defects of  Mcph1 tm1a    / tm1a   mice included small skull sizes, increased micronuclei in red blood cells, increased B cells and ocular abnormalities. These findings not only recapitulated the defects found in other  Mcph1 -deficient mice or  MCPH1  patients, but also revealed an unexpected phenotype, otitis media with hearing impairment, which suggests  Mcph1  is a new gene underlying genetic predisposition to otitis media.

Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media