ArticlePediatric research2016
Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.
Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.Human mutation · 2026Review
- Zinc deficiency as possible link between immunosenescence and age-related diseases.Immunity & ageing : I & A · 2025Review
- Transient neonatal zinc deficiency in a 3-month-old infant: A case report.SAGE open medical case reports · 2025Article
- Tracing Zinc's Role in Preterm Infants' Health: A Narrative Review.Advances in nutrition (Bethesda, Md.) · 2024Review
- Analysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant.BMC pediatrics · 2024Article
- NovelPediatric investigation · 2023Article
- Zinc Signaling in the Mammary Gland: For Better and for Worse.Biomedicines · 2021Review
- Review
- Japan's Practical Guidelines for Zinc Deficiency with a Particular Focus on Taste Disorders, Inflammatory Bowel Disease, and Liver Cirrhosis.International journal of molecular sciences · 2020Review
- Maintenance of Intestinal Epithelial Homeostasis by Zinc Transporters.Digestive diseases and sciences · 2019Review
- A structural overview of the zinc transporters in the cation diffusion facilitator family.Acta crystallographica. Section D, Structural biology · 2019Review
- ZnT2 is an electroneutral proton-coupled vesicular antiporter displaying an apparent stoichiometry of two protons per zinc ion.PLoS computational biology · 2019Article
- High proportion of transient neonatal zinc deficiency causing alleles in the general population.Journal of cellular and molecular medicine · 2019Article
- Evaluation of the roles of the cytosolic N-terminus and His-rich loop of ZNT proteins using ZNT2 and ZNT3 chimeric mutants.Scientific reports · 2018Article
- SLC30A family expression in the pancreatic islets of humans and mice: cellular localization in the β-cells.Journal of molecular histology · 2018Article
- Zinc as a Gatekeeper of Immune Function.Nutrients · 2017Review
- Understanding the Contribution of Zinc Transporters in the Function of the Early Secretory Pathway.International journal of molecular sciences · 2017Review
- Physiological roles of zinc transporters: molecular and genetic importance in zinc homeostasis.The journal of physiological sciences : JPS · 2017Review
- Dissecting the Process of Activation of Cancer-promoting Zinc-requiring Ectoenzymes by Zinc Metalation Mediated by ZNT Transporters.The Journal of biological chemistry · 2017Article
- The PP-motif in luminal loop 2 of ZnT transporters plays a pivotal role in TNAP activation.The Biochemical journal · 2016Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInfants are vulnerable to zinc deficiency. Thus, abnormally low breast milk zinc levels cause transient neonatal zinc deficiency (TNZD) in breast-fed infants. TNZD has been considered to be rare because of a paucity of citations in the published literature. However, recent studies of affected mothers identified four missense mutations in the solute carrier family 30 member 2 gene (SLC30A2), which encodes the zinc transporter, ZnT2.
methodsGenetic analyses of SLC30A2/ZnT2 in three Japanese mothers secreting low-zinc milk (whose infants developed TNZD) were performed. The effects of identified mutations were examined in a cell-based assay. Furthermore, 31 single-nucleotide polymorphisms (SNPs) in SLC30A2/ZnT2 were evaluated for their potential involvement in low-zinc levels in milk.
resultsEach mother had a different novel heterozygous mutation in SLC30A2/ZnT2. One mutation reduced splicing efficiency of the SLC30A2/ZnT2 transcript, and all ZnT2 mutants were defective in zinc transport and were unstable in cells. Moreover, four SNPs caused a significant loss of zinc-transport activity, similar to that in disease-causing ZnT2 mutants.
conclusionOur results indicate that many SLC30A2/ZnT2 mutations cause or potentially cause TNZD. Genetic information concerning TNZD pathogenesis is limited, and our results suggest that the TNZD frequency may be higher than previously thought.
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