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A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.

Experimental dermatology - 1 Jun 2020

Li Zhongtao, Wang Jiayue, Yang Yuan, Wang Sheng

Abstract excerpt

The SLC30A2 gene encodes zinc transporter ZnT2, which is indispensable for the transport of zinc into the breast milk in the mammary gland. Transient neonatal zinc deficiency (TNZD) is caused by a mutation in the maternal SLC30A2 gene and has a clinical presentation similar to that of acrodermatitis enteropathica (AE). We described the case of a Chinese infant who presented with AE-like lesions 10 days after...

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PMID: 32278324
DOI: 10.1111/exd.14099

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