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• W2006883202 abstract "Heterozygous mutations of the human FOXP2 gene cause a developmental disorder involving impaired learning and production of fluent spoken language. Previous investigations of its aetiology have focused on disturbed function of neural circuits involved in motor control. However, Foxp2 expression has been found in the cochlea and auditory brain centers and deficits in auditory processing could contribute to difficulties in speech learning and production. Here, we recorded auditory brainstem responses (ABR) to assess two heterozygous mouse models carrying distinct Foxp2 point mutations matching those found in humans with FOXP2-related speech/language impairment. Mice which carry a Foxp2-S321X nonsense mutation, yielding reduced dosage of Foxp2 protein, did not show systematic ABR differences from wildtype littermates. Given that speech/language disorders are observed in heterozygous humans with similar nonsense mutations (FOXP2-R328X), our findings suggest that auditory processing deficits up to the midbrain level are not causative for FOXP2-related language impairments. Interestingly, however, mice harboring a Foxp2-R552H missense mutation displayed systematic alterations in ABR waves with longer latencies (significant for waves I, III, IV) and smaller amplitudes (significant for waves I, IV) suggesting that either the synchrony of synaptic transmission in the cochlea and in auditory brainstem centers is affected, or fewer auditory nerve fibers and fewer neurons in auditory brainstem centers are activated compared to wildtypes. Therefore, the R552H mutation uncovers possible roles for Foxp2 in the development and/or function of the auditory system. Since ABR audiometry is easily accessible in humans, our data call for systematic testing of auditory functions in humans with FOXP2 mutations." @default.
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• W2006883202 date "2009-09-01" @default.
• W2006883202 modified "2023-10-10" @default.
• W2006883202 title "Modified sound-evoked brainstem potentials in Foxp2 mutant mice" @default.
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• W2006883202 doi "https://doi.org/10.1016/j.brainres.2009.06.092" @default.
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