Identifying novel heterozygous PI4KA variants in fetal abnormalities.

ABSTRACT:

Background

The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.

Methods

A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies. Novel PI4KA variants were detected through clinical Whole exon sequencing (WES) and validated by Sanger sequencing. The functional consequences of these variants were evaluated using bioinformatics tools. The effects of the identified variants on splicing were a

SUBMITTER: Cheng C 

PROVIDER: S-EPMC11783698 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature