{"id":"5c22444d-3432-5403-a852-b49f798a6fb2","stable_key":"6d38d43e-01e4-5641-93be-65654271e242:zinc-trans-milk-compound-variants","predicate":"variant_associated_with","statement":"A mother carrying W152R and S296L on different SLC30A2 alleles had a reported greater-than-90% reduction in milk zinc; her breastfed infant developed severe zinc deficiency.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"3c709eaa-1c1c-5bab-897b-b0d4786acc36","mechanism_event_label":"Two different maternal variants were linked to profoundly low milk zinc.","subject":{"id":"a527043c-0551-5ad5-8e90-033a73b8723a","slug":"slc30a2","display_name":"Human ZnT2 (SLC30A2)","entity_type_key":"protein"},"object":{"id":"68a7a2a0-07f3-57fd-b7cb-8722617a105c","slug":"milk-zinc-concentration","display_name":"Breast-milk zinc concentration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"3c709eaa-1c1c-5bab-897b-b0d4786acc36","stable_key":"6d38d43e-01e4-5641-93be-65654271e242:zinc-trans-milk-compound-variants-event","event_type":"observed_intervention","label":"Two different maternal variants were linked to profoundly low milk zinc.","description":"A mother carrying W152R and S296L on different SLC30A2 alleles had a reported greater-than-90% reduction in milk zinc; her breastfed infant developed severe zinc deficiency.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"4d11f008-f746-562e-8f44-ff8ebcf5b1ab","slug":"slc30a2-w152r","display_name":"Human ZnT2 W152R","entity_type_key":"protein_state"},"role":"maternal_variant","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"4f788ffc-a955-5369-88ac-240fccaf5a8f","slug":"slc30a2-s296l","display_name":"Human ZnT2 S296L","entity_type_key":"protein_state"},"role":"maternal_variant","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"46b12705-bac3-5732-8d4b-112e103f13de","slug":"neonatal-zinc-deficiency","display_name":"Neonatal zinc deficiency","entity_type_key":"cellular_process"},"role":"infant_endpoint","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"a527043c-0551-5ad5-8e90-033a73b8723a","slug":"slc30a2","display_name":"Human ZnT2 (SLC30A2)","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"68a7a2a0-07f3-57fd-b7cb-8722617a105c","slug":"milk-zinc-concentration","display_name":"Breast-milk zinc concentration","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":4,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"Maternal zinc secretion determines a source of infant zinc supply.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/zinc-transport-sources/23741301-abstract.txt\", \"locator\": \"Primary indexed abstract; case results\", \"file_sha256\": \"b422d27e8731293ae1597e65a72d9a6f6c1a161b7adaff3f114ee23f0e95408a\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human mother–infant clinical genetic observations","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Naturally occurring maternal SLC30A2 variants; exclusive breastfeeding in the reported case setting.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small family/case evidence does not establish population frequency or penetrance. Molecular cell assays are separate linked claims; maternal supplementation response is not inferred for these individuals from introductory background.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Zinc research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"zinc","display_name":"Zinc","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Two different maternal variants were linked to profoundly low milk zinc.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[zinc-trans-23741301] Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant. (2013). https://pubmed.ncbi.nlm.nih.gov/23741301/ DOI: 10.1371/journal.pone.0064045","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Maternal milk and breastfed infant","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"f30a2f91-d9d9-5808-a3b8-c58dd4593a42","evidence_kind":"source_excerpt","locator":"Lines 571-583","start_line":571,"end_line":583,"excerpt":"### zinc-trans-milk-compound-variants\nA mother carrying W152R and S296L on different SLC30A2 alleles had a reported greater-than-90% reduction in milk zinc; her breastfed infant developed severe zinc deficiency.\nCondition category: machinery_impairment\nnutrient_topic: Zinc research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Two different maternal variants were linked to profoundly low milk zinc.\norganism: Homo sapiens\ntissue_or_cell_type: Maternal milk and breastfed infant\nexperimental_model: Human mother–infant clinical genetic observations\nlimitations: Small family/case evidence does not establish population frequency or penetrance. Molecular cell assays are separate linked claims; maternal supplementation response is not inferred for these individuals from introductory background.\nexposure: Naturally occurring maternal SLC30A2 variants; exclusive breastfeeding in the reported case setting.\ncross_nutrient: Maternal zinc secretion determines a source of infant zinc supply.\nevidence_span: {\"source_cache\": \"artifacts/zinc-transport-sources/23741301-abstract.txt\", \"locator\": \"Primary indexed abstract; case results\", \"file_sha256\": \"b422d27e8731293ae1597e65a72d9a6f6c1a161b7adaff3f114ee23f0e95408a\"}\n[zinc-trans-23741301] Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant. (2013). https://pubmed.ncbi.nlm.nih.gov/23741301/ DOI: 10.1371/journal.pone.0064045","model_system":"Human mother–infant clinical genetic observations","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [zinc-trans-23741301] Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant. (2013). https://pubmed.ncbi.nlm.nih.gov/23741301/ DOI: 10.1371/journal.pone.0064045","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"c5ee0fee-ce5c-58de-905a-10fb0ea0723c","stable_key":"import-6d38d43e-01e4-5641-93be-65654271e242","title":"Zinc: transport, enzyme loading, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"2e731dd54477ec1254e97df3323e1208d38f1375effed19252e71ab4f600d13a","revision_id":"c72258b9-ac09-5408-9d44-a921ad1f96a3","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}