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

IF 1.9 4区医学 Q2 PEDIATRICS Pediatric Investigation Pub Date : 2023-02-22 eCollection Date: 2023-03-01 DOI:10.1002/ped4.12366

Taichiro Muto, Yuriko Kawase, Kaori Aiba, Miyuki Okuma, Naoya Itsumura, Shuangyu Luo, Namino Ogawa, Tokuji Tsuji, Taiho Kambe

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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 site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the SLC30A2 promoter, the first mutations in the SLC30A2 regulatory region reported to date.

Interpretation: This report provides new genetic insights into TNZD pathogenesis in breastfed infants.

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新生儿一过性锌缺乏症发病机制中的新型 SLC30A2 突变。

重要性：一过性新生儿锌缺乏症（TNZD）发生在母乳喂养的婴儿身上，原因是母乳中锌含量异常低。编码锌转运体 ZNT2 的溶质运载家族 30 成员 2（SLC30A2）基因突变会导致母乳中锌浓度过低：本研究旨在进一步了解 TNZD 的病理生理学：方法：对三位无血缘关系的日本母亲进行了 SLC30A2 测序，她们的婴儿因食用低锌乳汁而患上 TNZD。结果：发现了新的SLC30A2突变：结果：每位母亲都发现了新的 SLC30A2 突变。其中一位母亲的 ZNT2 锌结合位点存在杂合性错义突变，导致锌转运缺陷。另外两名母亲在 SLC30A2 启动子中表现出多个杂合突变，这是迄今为止报告的首个 SLC30A2 调节区突变：本报告为母乳喂养婴儿的 TNZD 发病机制提供了新的遗传学见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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