Expansion of the Genotypic and Phenotypic Spectrum of <i>TCTN3</i>-Related Joubert Syndrome.

ABSTRACT:

Background/objectives

Joubert syndrome (JS, MIM 213300) is a rare genetic condition characterized by respiratory control disturbances, abnormal eye movements, ataxia, cognitive impairment, and the notable agenesis of the cerebellar vermis. The molar tooth sign visible in magnetic resonance imaging of the brain serves as a diagnostic tool for JS. Variants in the TCTN3 gene can lead to the development of several diseases, including JS type 18, Orofaciodigital syndrome IV, and Meckel-Gruber syndrome.

Methods

We performed whole-exome sequencing (WES) in a 49-year-old woman with JS characterized by severe intellectual disability, ataxic gait, agenesis of the cerebellar vermis leading to the molar tooth sign, dystonic movements, strabismus, and nystagmus. Moreover, the pati

SUBMITTER: Lo Giudice M 

PROVIDER: S-EPMC12193267 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature