title: Transient Neonatal Zinc Deficiency Caused by a Novel Mutation in the SLC30A2 Gene.
abstract: This is a case report of a 4-month-old full-term, fully breastfed boy who presented with a persistent periorificial and groin rash associated with poor weight gain and irritability. His serum zinc level was low. The mother's breast milk zinc level was found to be low despite her serum zinc levels being normal, confirming the diagnosis of transient neonatal zinc deficiency. Mutational analysis revealed a novel mutation in the mother's SLC30A2 gene, which encodes a zinc transporter expressed in mammary gland epithelial cells.
authors.affiliation: Dermatology Service, KK Women's and Children's Hospital, Singapore City, Singapore.
authors.forename: Hui M
authors.initials: HM
authors.lastname: Liew
authors.affiliation: Dermatology Service, KK Women's and Children's Hospital, Singapore City, Singapore.
authors.forename: Colin W
authors.initials: CW
authors.lastname: Tan
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore City, Singapore.
authors.forename: Clement K M
authors.initials: CK
authors.lastname: Ho
authors.affiliation: Dermatology Service, KK Women's and Children's Hospital, Singapore City, Singapore.
authors.forename: Jade N
authors.initials: JN
authors.lastname: Chee
authors.affiliation: Dermatology Service, KK Women's and Children's Hospital, Singapore City, Singapore.
authors.forename: Mark J A
authors.initials: MJ
authors.lastname: Koh
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008895:Milk, Human / Q000737:chemistry*; D009154:Mutation / Q000235:genetics*; D015032:Zinc / Q000172:deficiency*
chemical_list: D027682:Cation Transport Proteins; C486299:SLC30A2 protein, human; D015032:Zinc