Genetic Epilepsy

Gene: OGT

Red List (low evidence)

PMID: 29769320: In a cohort of 3 individuals with intellectual disability and OGT variants, 1x male had atonic seizures, tonic seizures, generalized tonic clonic seizures, and staring spells. He was hemizygous for a p.(A259T) variant, inherited from his heterozygous mother. Differential transcriptomes of the OGT variant–expressing stem cells revealed shared deregulation of genes involved in cell fate determination and liver X receptor/retinoid X receptor signaling, which has been implicated in neuronal development.

PMID: 37334838: In a family with four sons (including one set of monozygotic twins), a hemizygous p.(C921Y) variant was found in 3 of the sons associated with intellectual disability. Only one twin had at least two generalised tonic clonic seizures with an age of onset of 40 yo. Colonies formed by mouse embryonic stem cells carrying the variant showed decreased levels of protein O-GlcNAcylation accompanied by decreased levels of Oct4 (encoded by Pou5f1), Sox2 and extracellular alkaline phosphatase (ALP), implying reduced self-renewal capacity.

Created: 21 Dec 2023, 6 a.m. | Last Modified: 21 Dec 2023, 6 a.m.

Panel Version: 0.2096

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 106 MIM#300997

Publications

• 29769320
• 37334838

Red List (low evidence)

Epilepsy not reported
Sources: Literature

Created: 18 Oct 2021, 1:53 a.m. | Last Modified: 18 Oct 2021, 5:46 a.m.

Panel Version: 0.1337

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 106 MIM#300997

Publications

• PMID: 28302723
• 28584052
• 31296563
• 31627256
• 29769320
• 29606577

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

Green List (high evidence)

OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association.

Created: 26 Nov 2020, 2:31 a.m. | Last Modified: 26 Nov 2020, 2:31 a.m.

Panel Version: 0.5466

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 106, MIM# 300997

Publications

• 28302723
• 28584052
• 31296563
• 31627256
• 29769320
• 29606577