Severe microcephaly

Gene: NAA20

I don't know

Comment on phenotypes: Currently there is no phenotype associated with this gene in OMIM, Gen2Phen or MONDO (13/07/2021).

Created: 13 Jul 2021, 11:08 a.m. | Last Modified: 13 Jul 2021, 11:09 a.m.

Panel Version: 2.219

Not associated with a phenotype in OMIM nor Gen2Phen. Two missense variants reported as homozygotes in one family each. In silico predictions and in vitro functional studies provide evidence that these variants will adversely affect their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates (PMID 34230638). Children from these two families had developmental delay, intellectual disability (mild to moderate family 1, severe family 2).
The two children in family 1 in this study had a head circumcernces of -2.3 & -1.9 SD (which is not regarded as severe microcephaly).
The three children from family 2 in this study had a head circumcernces of -3.5, -3.0 & -3.5 SD (which is regarded as severe microcephaly). Subtle dysmorphic features were also reported.
Sources: Literature

Created: 13 Jul 2021, 11:05 a.m. | Last Modified: 13 Jul 2021, 11:20 a.m.

Panel Version: 2.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive developmental delay, intellectual disability, and microcephaly

Publications

• 34230638