Transient Neonatal Zinc Deficiency due to Maternal Variants in SLC30A2 : An Emerging and Atypical Candidate Gene for Maternal Carrier Screening.

Christopher Carter¹, Danielle Luz¹, Emma E Smith^1,2, Stuart A Scott³, Nivedita S Srinivas⁴, Run-Zhang Shi³, Christina G Tise¹

¹Division of Medical Genetics and Genomics, Department of Pediatrics, Stanford University, Palo Alto, California, USA.

²Department of Research and Development, Ambry Genetics, Aliso Viejo, USA.

³Department of Pathology, Stanford University, Palo Alto, California, USA.

⁴Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, California, USA.

PubMed DOI

Abstract

Transient neonatal zinc deficiency (TNZD) is a genetic condition that presents with dermatitis, alopecia, diarrhea, and growth faltering in breast milk-fed infants of females with a heterozygous pathogenic variant in SLC30A2, the primary zinc transporter in mammary glands. Despite being an easily treatable condition, effectively evaluating for TNZD can be challenging because the infant's genotype…

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