D-DEMO, a distinct phenotype caused by ATP1A3 mutations.

ABSTRACT:

Objective

To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset.

Methods

Review and analysis of clinical and genetic data.

Results

Patients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2

SUBMITTER: Prange L 

PROVIDER: S-EPMC7413631 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature