GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

ABSTRACT:

Background

De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17).

Methods

We report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. We performed whole-exome sequencing, a computational structural analysis of the novel gene variant identified and reviewed the previously reported cases.

Results

Trio whole-exome-sequencing uncovered a de novo p.Leu199Pro GNAO1 mutation. Computational

SUBMITTER: Marce-Grau A 

PROVIDER: S-EPMC4830060 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature