Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

ABSTRACT: N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have been associated with diverse, syndromic X-linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the n

SUBMITTER: Saunier C 

PROVIDER: S-EPMC5084832 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature