Research Notes

Genetic factors and their action in persistent stuttering

Carlos Frigerio Domingues, Tae-Un Han, and Dennis Drayna, National Institutes of Health, Bethesda, Maryland このメールアドレスはスパムボットから保護されています。閲覧するにはJavaScriptを有効にする必要があります。  

The ability to produce fluent speech is developedand maintained to a large degree by the products of our genes; defects in genes have been repeatedly associated with stuttering.  Starting with studies in large families in which there are many cases of persistent developmental stuttering, mutations in the GNPTABGNPTGNAGPA,and AP4E1genes have been associated with this communication disorder (Kang et al, N Engl J Med, 2010, Raza et al, Am J Hum Genet, 2015.  Together, mutations in these these four genes seem to account for approximately 20% of cases of persistent stuttering in the general population (Raza et al, Eur J Hum Genet, 2015, Frigerio-Domingues and Drayna, Mol Genet Genome Med2017) . All of these genes encode components of the machinery that moves molecules to their proper location within cells, a process known as intracellular trafficking.  Deficits in various aspects of intracellular trafficking are now recognized as causative in other neurological disorders, ranging from rare disorders such as Huntington’s Disease to common disorders such as Alzheimer’s Disease. 

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