Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.

ABSTRACT:

Objective

GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1-related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity.

Methods

A total of 16 individuals with GNAO1-related disorders harboring 12 distinct missense variants, including four novel variants (p.K46R, p.T48I, p.R209P, and p.L235P), were examined with repeated clinical assessments, video

SUBMITTER: Dominguez-Carral J 

PROVIDER: S-EPMC10681096 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature