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

Research paper by Naoya Itsumura, Yoshie Kibihara, Kazuhisa Fukue, Akiko Miyata, Kenji Fukushima, Risa Tamagawa-Mineoka, Norito Katoh, Yukina Nishito, Riko Ishida, Hiroshi Narita, Hiroko Kodama, Taiho Kambe

Indexed on: 16 Jun '16Published on: 16 May '16Published in: Pediatric Research


Infants 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.

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