Genetic Epilepsy

Gene: NAA10

Green List (high evidence)

PMID: 37130971 – Cohort of individuals with NAA10-related neurodevelopmental syndrome. Phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). Seizures occur in 34/95 (35.8%) individuals with NAA10 variants (current cohort and previously reported individuals).

Created: 28 Dec 2023, 11:16 p.m. | Last Modified: 28 Dec 2023, 11:16 p.m.

Panel Version: 0.2112

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
NAA10-related syndrome MONDO:0100124

Publications

• 37130971

Green List (high evidence)

For Ogden association:
lethal X-linked. 9 males from 3 families with recurrent Ser37Pro
All presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias

For non-lethal syndromic ID:
reported in 10 males and (mostly de novo) in 37 females
variants causing this are missense located along the protein and 1 truncating

For syndromic microopththamia: variants are in the UTR

Created: 7 Jan 2022, 3:57 a.m. | Last Modified: 7 Jan 2022, 3:57 a.m.

Panel Version: 0.10556

Mode of inheritance
Other

Phenotypes
Ogden syndrome MIM#300855

Publications

• 34075687
• 21700266

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

I don't know

x2 unrelated females with heterozygous NAA10 variants reported to have childhood-onset epilepsy (one individual with eyelid myoclonia)

Created: 18 Oct 2021, 2:28 a.m. | Last Modified: 18 Oct 2021, 2:28 a.m.

Panel Version: 0.1317

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Microphthalmia, syndromic 1 - 309800; Ogden syndrome - 300855; Seizures

Publications

• 29957440
• 34200686

Green List (high evidence)

Three families with polyadenylation signal (PAS) variants reported. Females are unaffected. Quantitative PCR and RNAseq showed reduced NAA10 mRNA levels and abnormal 3′ UTRs in affected individuals.

Created: 20 Apr 2020, 2:56 a.m. | Last Modified: 20 Apr 2020, 2:56 a.m.

Panel Version: 0.2361

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
syndromic X-linked microphthalmia

Publications

• PMID: 30842225.

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

Red List (low evidence)

Single family reported with the Lenz microphthalmia phenotype, which is the NAA10 disorder linked with seizures. Gene also causes Ogden syndrome, but seizures not a listed feature in OMIM.

Created: 24 Jan 2020, 7:56 a.m. | Last Modified: 24 Jan 2020, 7:56 a.m.

Panel Version: 0.359

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

Phenotypes
Microphthalmia, syndromic 1 309800

Publications

• 11426460