{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:11:18Z","timestamp":1790964678539,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:00:00Z","timestamp":1774137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:00:00Z","timestamp":1774137600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Transient neonatal zinc deficiency (TNZD) is a genetic condition that presents with dermatitis, alopecia, diarrhea, and growth faltering in breast milk\u2010fed infants of females with a heterozygous pathogenic variant in\n                    <jats:italic>SLC30A2<\/jats:italic>\n                    , 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 does not reliably reflect the mother's genotype. Herein, we present our approach to diagnosis in an exclusively breastfed 5\u2010month\u2010old infant with treatment\u2010refractory eczematous rash, admitted for growth faltering and decreased serum zinc and alkaline phosphatase levels. The infant was diagnosed with TNZD via trio genome\u2010based exome sequencing after a heterozygous\n                    <jats:italic>SLC30A2<\/jats:italic>\n                    variant of uncertain significance (VUS) (c.927G&gt;C; p.Trp309Cys) was identified in the proband's mother, which was notably absent in the proband. Breast milk zinc concentration ([Zn]) was measured in duplicate via inductively coupled mass spectrometry in 10 samples (3 from the proband's mother and 7 from unrelated controls) and measured \u2212265, \u2212144, and \u221246\u2009\u03bcg\/dL below expected [Zn] at 0, 5, and 7\u2009months postpartum, respectively, compared to an average deviation of \u221229\u2009\u03bcg\/dL in controls. Zinc supplementation in the infant led to rapid clinical improvement. The absence of the maternal\n                    <jats:italic>SLC30A2<\/jats:italic>\n                    variant in the proband underscores diagnostic challenges in evaluating for TNZD, as primary variant analysis is typically limited to the proband in trio testing. Though the prevalence of\n                    <jats:italic>SLC30A2<\/jats:italic>\n                    disease\u2010causing variants is unclear, carrier screening may provide a unique opportunity to proactively identify females with known pathogenic\n                    <jats:italic>SLC30A2<\/jats:italic>\n                    variants that would impart risk to their future breastfed children and breast milk recipients.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70131","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T05:31:57Z","timestamp":1774243917000},"page":"1868-1873","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Transient Neonatal Zinc Deficiency due to Maternal Variants in\n                    <scp>\n                      <i>SLC30A2<\/i>\n                    <\/scp>\n                    : An Emerging and Atypical Candidate Gene for Maternal Carrier Screening"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9766-2905","authenticated-orcid":false,"given":"Christopher","family":"Carter","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Luz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma E.","family":"Smith","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics Stanford University  Palo Alto California USA"},{"name":"Department of Research and Development Ambry Genetics  Aliso Viejo USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5720-1864","authenticated-orcid":false,"given":"Stuart A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nivedita S.","family":"Srinivas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4917-7942","authenticated-orcid":false,"given":"Run\u2010Zhang","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-7895","authenticated-orcid":false,"given":"Christina G.","family":"Tise","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392\u2010023\u201001679\u2010y"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.advnut.2024.100295"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.101055"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.2147\/JAA.S246175"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/fmp086"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13982"},{"key":"e_1_2_9_8_1","volume-title":"StatPearls","author":"Jagadeesan S.","year":"2025"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.17179\/excli2023\u20106335"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.envres.2018.11.017"},{"key":"e_1_2_9_11_1","volume-title":"StatPearls","author":"Maxfield L.","year":"2025"},{"key":"e_1_2_9_12_1","volume-title":"StatPearls","author":"Nemeth V.","year":"2025"},{"key":"e_1_2_9_13_1","unstructured":"OMIM.2017.\u201cEntry \u2013 *609617 \u2013 Solute Carrier Family 30 (Zinc Transporter) Member 2; SLC30A2 \u2013 OMIM.Org.\u201dAccessed August 10 2025.https:\/\/www.omim.org\/entry\/609617?search=slc30a2&highlight=slc30a2."},{"key":"e_1_2_9_14_1","unstructured":"OMIM.2025.\u201cEntry \u2013 *607059 \u2013 Solute Carrier Family 39 (Zinc Transporter) Member 4; SLC39A4 \u2013 OMIM.org.\u201dAccessed August 10 2025.https:\/\/www.omim.org\/entry\/607059?search=slc39a4&highlight=slc39a4."},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.7213"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/foods12193674"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13006\u2010023\u201000564\u20102"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/68.2.447S"},{"key":"e_1_2_9_19_1","unstructured":"UpToDate.2025.\u201cZinc Deficiency and Supplementation in Children.\u201dAccessed March 2 2025.https:\/\/www.uptodate.com\/contents\/zinc\u2010deficiency\u2010and\u2010supplementation\u2010in\u2010children#H6."},{"key":"e_1_2_9_20_1","unstructured":"VCV002279279.2.2023.\u201cClinVar \u2013 NCBI.\u201dAccessed August 10 2025.https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/2279279\/."}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70131","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70131","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70131","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:40Z","timestamp":1783009780000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,22]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70131"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70131","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,22]]},"assertion":[{"value":"2025-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}