Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency.

ABSTRACT:

Importance

Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 (SLC30A2) gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.

Objective

This study aimed to provide further insights into TNZD pathophysiology.

Methods

SLC30A2 sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.

Results

Novel SLC30A2 mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding

SUBMITTER: Muto T 

PROVIDER: S-EPMC10030689 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature