Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.

ABSTRACT:

Background

Lysine acetyltransferase 6B (KAT6B) encodes a highly conserved histone acetyltransferase that regulates the expression of multiple genes and is essential for human growth and development.

Methods

We identified a novel frameshift variant c.3185del (p.leu1062Argfs*52) in a 5-year-old Chinese boy and further analyzed KAT6B expression and its interacting complexes and downstream products using real-time quantitative polymerase chain reaction (qPCR). Furthermore, we assessed its three-dimensional protein structure and compared the variant with other reported KAT6B variants.

Results

The deletion changed the leucine at position 1062 into an arginine, resulting in translation termination after base 3340, which may have affected protein stability and protein-protein

SUBMITTER: Sun X 

PROVIDER: S-EPMC10496035 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature