Case report: Novel multi-exon homozygous deletion of <i>ZBTB24</i> causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.

ABSTRACT: Immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF) is a rare genetic disease characterized by hypogammaglobulinemia, T cell immune deficiency with age, pericentromeric hypomethylation, facial abnormalities, and intellectual disability. This study aimed to investigate the phenotype and immune function of a girl with ICF2, identify her genetic defect, and explore the potential pathogenic mechanisms of the disease. We identified a homologous deletion mutation in this girl, which involves exons 1-5 and part of introns 1 and 6 of the ZBTB24 gene (NG_029388.1: g.2831_18,995del). This ZBTB24 variant produces a severely truncated ZBTB24 protein that lacks the BTB, A-T hook and eight zinc fingers. The above changes may lead to abnormal transcriptional funct

SUBMITTER: Long Y 

PROVIDER: S-EPMC11825828 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature