Dystonia - complex

Gene: FBXO28

Green List (high evidence)

Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.

Movement disorders occurred in eight of 10 patients.

Created: 8 Apr 2022, 9:32 a.m. | Last Modified: 8 Apr 2022, 9:32 a.m.

Panel Version: 0.210

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 100, MIM# 619777

Green List (high evidence)

Sources: Literature

Created: 8 Apr 2022, 1:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy

Publications

• 33280099

Variants in this GENE are reported as part of current diagnostic practice