Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter.

ABSTRACT: Developmental stuttering is a common speech disorder with strong genetic underpinnings. Recently, stuttering has been associated with mutations in genes involved in lysosomal enzyme trafficking. However, how these mutations affect the brains of people who stutter remains largely unknown. In this study, we compared grey matter volume and white matter fractional anisotropy between a unique group of seven subjects who stutter and carry the same rare heterozygous AP4E1 coding mutations and seven unrelated controls without such variants. The carriers of the AP4E1 mutations are members of a large Cameroonian family in which the association between AP4E1 and persistent stuttering was previously identified. Compared to controls, mutation carriers showed reduced grey matter vol

SUBMITTER: Chow HM 

PROVIDER: S-EPMC8633735 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature