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Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or \u2018blocks\u2019. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C&amp;gt;T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.<\/jats:p>","DOI":"10.1093\/brain\/awad314","type":"journal-article","created":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T01:53:15Z","timestamp":1700272395000},"page":"5086-5097","source":"Crossref","is-referenced-by-count":14,"title":["Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela T","family":"Morgan","sequence":"first","affiliation":[{"name":"Murdoch Children\u2019s Research Institute , Parkville 3052 , Australia"},{"name":"Department of Audiology and Speech Pathology, University of Melbourne , Parkville 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S","family":"Scerri","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research 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