Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.

ABSTRACT:

Background

Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this is influenced by the function of iron-responsive element-binding protein 2 (IRP2), encoded by the IREB2 gene. Since 2019, three cases of a genetic neurodegenerative syndrome resulting from compound heterozygous mutations in IREB2 have been documented, highlighting the crucial role of IRP2 in regulating iron metabolism homeostasis. This study aims to investigate the molecular basis in a single proband born to non-consanguineous healthy parents, presenting with severe psychomotor developmental abnormalities and microcytic anemia.

Methods

Trio-whole exome sequencing (WES) was applied to identify the disease-causing gene in an 8-month-old male patient from China.

SUBMITTER: Guo Z 

PROVIDER: S-EPMC11587613 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature