Neurodevelopmental disorder with dystonia due to SOX6 mutations.

ABSTRACT:

Background

Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, <25 cases have been reported in the literature.

Methods and findings

Here we report a new case of SOX6-associated neurodegeneration and expand the phenotype to include ceratoconus. The clinical picture consisted of early onset mildly reduced intellectual function, facial asymmetry, and dystonic tremor of hands and neck, substantially improved by levodopa. Skeletal abnormalities included scoliosis and hypertrophy of the mandibular coronoid process. A heterozygous de novo loss-of-function variant in SOX6 (c.277 C>T. p.Arg93*) was molec

SUBMITTER: Schneider SA 

PROVIDER: S-EPMC9747553 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature