Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

ABSTRACT:

Background

GNAO1 encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins). Mutations in GNAO1 result in two clinical phenotypes: Early infantile epileptic encephalopathy 17 (EEIE17-OMIM #615473) and Neurodevelopmental disorder with involuntary movements (NEDIM-OMIM #617493). Both are inherited as autosomal dominant disorders and originate mainly as de novo. Only a few are reported as gonadal mosaicism.

Materials and methods

We recruited and retrospectively reviewed five patients from two families seen at King Faisal Specialist Hospital and Research Centre in Riyadh (KFSHRC).

Results

All patients presented with severe neurodevelopmental disorder, followed by progressive dystonia and hyperkinetic movements. In additio

SUBMITTER: Al Masseri Z 

PROVIDER: S-EPMC9248221 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature