Genetic Epilepsy

Gene: OTUD7A

I don't know

As per December 2023, no further associations.

Created: 21 Dec 2023, 3:17 a.m. | Last Modified: 21 Dec 2023, 3:17 a.m.

Panel Version: 0.2094

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy

Publications

• 31997314
• 29395075
• 29395074
• 33381903

I don't know

Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.

Created: 5 Nov 2021, 1:01 a.m. | Last Modified: 5 Nov 2021, 1:01 a.m.

Panel Version: 0.1374

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790

Publications

• 31997314
• 29395075
• 29395074
• 33381903

Red List (low evidence)

One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature

Created: 4 Jun 2020, 12:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, no OMIM# yet

Publications

• PMID: 31997314