Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy.

ABSTRACT:

Background

Defects in PPP1R12A can lead to genitourinary and/or brain malformation syndrome (GUBS). GUBS is primarily characterized by neurological or genitourinary system abnormalities, but a few reported cases are associated with neonatal seizures. Here, we report a case of a female newborn with neonatal seizures caused by a novel variant in PPP1R12A, aiming to enhance the clinical and variant data of genetic factors related to epilepsy in early life.

Methods

Whole-exome and Sanger sequencing were used for familial variant assessment, and bioinformatics was employed to annotate the variant. A structural model of the mutant protein was simulated using molecular dynamics (MD), and the free binding energy between PPP1R12A and PPP1CB was analyzed. A mutant plasmid was construc

SUBMITTER: Tong L 

PROVIDER: S-EPMC11429181 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature