{"id":"6ab999cb-a5f4-53f6-9986-ce7c410b2439","stable_key":"6d38d43e-01e4-5641-93be-65654271e242:zinc-trans-milk-h54r-family","predicate":"variant_associated_with","statement":"In the reported family, two exclusively breastfed infants developed zinc deficiency associated with low maternal milk zinc; affected mothers carried SLC30A2 H54R.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"c97bf440-3c4a-594e-8aa8-50d39a10a23f","mechanism_event_label":"A maternal transport variant was linked to low milk zinc and infant deficiency.","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":"c97bf440-3c4a-594e-8aa8-50d39a10a23f","stable_key":"6d38d43e-01e4-5641-93be-65654271e242:zinc-trans-milk-h54r-family-event","event_type":"observed_intervention","label":"A maternal transport variant was linked to low milk zinc and infant deficiency.","description":"In the reported family, two exclusively breastfed infants developed zinc deficiency associated with low maternal milk zinc; affected mothers carried SLC30A2 H54R.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"8a4003c4-10fd-5113-ba8e-26fc273d4f3b","slug":"slc30a2-h54r","display_name":"Human ZnT2 H54R","entity_type_key":"protein_state"},"role":"maternal_variant","stoichiometry":null,"state_label":"","sequence_order":0,"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":1,"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":2,"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":3,"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/17065149-abstract.txt\", \"locator\": \"Primary indexed abstract; case results\", \"file_sha256\": \"a10d24cc13794e7cda0ab3553fa7b351c4f2faa583c78331b96f96edfacbe9d1\"}","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":"A maternal transport variant was linked to low milk zinc and infant deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[zinc-trans-17065149] Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. (2006). https://pubmed.ncbi.nlm.nih.gov/17065149/ DOI: 10.1074/jbc.m605821200","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":"c924b99e-b1a5-5946-9288-af8b75d0e1f4","evidence_kind":"source_excerpt","locator":"Lines 557-569","start_line":557,"end_line":569,"excerpt":"### zinc-trans-milk-h54r-family\nIn the reported family, two exclusively breastfed infants developed zinc deficiency associated with low maternal milk zinc; affected mothers carried SLC30A2 H54R.\nCondition category: machinery_impairment\nnutrient_topic: Zinc research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A maternal transport variant was linked to low milk zinc and infant deficiency.\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/17065149-abstract.txt\", \"locator\": \"Primary indexed abstract; case results\", \"file_sha256\": \"a10d24cc13794e7cda0ab3553fa7b351c4f2faa583c78331b96f96edfacbe9d1\"}\n[zinc-trans-17065149] Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. (2006). https://pubmed.ncbi.nlm.nih.gov/17065149/ DOI: 10.1074/jbc.m605821200","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-17065149] Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. (2006). https://pubmed.ncbi.nlm.nih.gov/17065149/ DOI: 10.1074/jbc.m605821200","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}