Table 1 Summary of the clinical and genetic findings in the patients.

From: Two novel heterozygous variants in ATP1A3 cause movement disorders

 

Patient 1

Patient 2

Age

1y0m

14 y

Onset

0y4m

1y9m

Sex

Female

Male

Dystonia

−

+

Hemiplegia/Quadriplegia

−

−

Epilepsy

−

−

Abnormal eye movement

−

+

Developmental delay

+

−

ATP1A3 variants

cDNA change

c.2408G>A

c.2672_2688+10delinsCAG

Amino acid change

p.(Gly803Asp)

p.Ser891_Trp896delinsThrAlaGlyCysCysValSerAlaHisArgLysIleProGly

SIFT

0

N/A

PolyPhen-2

0.973

N/A

CADD

27.6

N/A

M-CAP

0.962096

N/A

ACMG guideline

Pathogenic

Likely pathogenic

PS2, PM1, PM2, PP3, PP5

PS3, PM2, PM4

  1. Variat description based on NM_152296.5.
  2. PolyPhen-2 Polymorphism Phenotyping v2, CADD Combined Annotation Dependent Depletion, SIFT Sorting Intolerant From Tolerant, M-CAP Mendelian Clinically Applicable Pathogenicity, ACMG American College of Medical Genetics and Genomics.
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