Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.

ABSTRACT:

Background and objectives

To investigate the pathogenicity of 2 novel KDM5C variations, report the clinical and neuroimaging findings, and review the available literature.

Methods

Physical examinations, structural neuroimaging studies, and exome sequence analysis were performed. KDM5C constructs were used to study the effect of the variations in transfected cells.

Results

We identified 2 novel variations c.2233C>G and c.3392_3393delAG in the KDM5C gene harboring from 2 Chinese families with X-linked intellectual disability (ID). The affected male patients exhibited severe ID, short stature, and facial dysmorphism. The 1 with c.3392_3393delAG additionally had epilepsy and autistic spectrum disorder (ASD). Transiently transfected mutant KDM5C constructs bo

SUBMITTER: Wu PM 

PROVIDER: S-EPMC8641966 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature