Congenital Heart Defect

Gene: NAA15

Green List (high evidence)

Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:

- ID (all)
- Mild dysmorphic features (20/30)
- ASD/ADHD/behavioural issues (30/33)
- Skeletal and connective tissue anomalies (10/22)
- Congenital heart defects (4/19)
- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)

In addition:

PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.
Sources: Literature

Created: 7 Mar 2022, 10:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; congenital heart defect

Publications

• 33103328
• 29656860
• 31127942
• 28191889
• 33557580
• 28990276