{"id":"a0cb04f7-a02c-571d-9873-fa19d9b6012c","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-syn-duox2-organification","predicate":"impairs","statement":"A homozygous truncating DUOX2 mutation accompanied a complete iodide-organification defect in the severe permanent case in the 2002 series.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"ef40d436-c1ed-5143-b5bc-0858397241ea","mechanism_event_label":"A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins.","subject":{"id":"3bae938c-e5ad-5ea4-9517-ef510e263a69","slug":"human-duox2-truncating-variants","display_name":"Human DUOX2 truncating variant proteins studied in 2002","entity_type_key":"protein_state"},"object":{"id":"242ae518-612f-5660-afc3-8191dbef3694","slug":"thyroid-iodide-organification","display_name":"Thyroid iodide organification","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"ef40d436-c1ed-5143-b5bc-0858397241ea","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-syn-duox2-organification-event","event_type":"observed_intervention","label":"A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins.","description":"A homozygous truncating DUOX2 mutation accompanied a complete iodide-organification defect in the severe permanent case in the 2002 series.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"20429538-a23e-5e16-b4ad-4bcb42727e71","slug":"duox2","display_name":"Human dual oxidase 2","entity_type_key":"protein"},"role":"normal_protein","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"83b11ca6-52c7-5a1b-8c39-d9cdf89244e3","slug":"iodide","display_name":"Iodide ion","entity_type_key":"ion"},"role":"substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"da9d64bc-69d4-5d97-90a4-8f0ed03e0ac8","slug":"hydrogen-peroxide","display_name":"Hydrogen peroxide","entity_type_key":"small_molecule"},"role":"required_reaction_partner","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"3bae938c-e5ad-5ea4-9517-ef510e263a69","slug":"human-duox2-truncating-variants","display_name":"Human DUOX2 truncating variant proteins studied in 2002","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"242ae518-612f-5660-afc3-8191dbef3694","slug":"thyroid-iodide-organification","display_name":"Thyroid iodide organification","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":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/iodine-synthesis-sources/12110737.json\", \"json_field\": \"abstractText\", \"text_sha256\": \"a0fa87eb7c584eb2b54cdc1de43ef65dd31bb4b7300f06c5b9ff4a8f703a151e\", \"text_characters\": 1953, \"note\": \"Exact publisher passage retained in the cited local source cache; locator and digest supplied here.\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Sequencing of nine newborn-screened patients with iodide-organification defects and their relatives","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Inherited DUOX2 truncation; no imposed dietary iodine restriction.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small selected genetic series; no universal genotype-to-prognosis rule.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Iodine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"iodine","display_name":"Iodine","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iodine-syn-duox2002] Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. (2002). https://pubmed.ncbi.nlm.nih.gov/12110737/ DOI: 10.1056/nejmoa012752","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Thyroid","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":"48711423-6865-596e-97bb-ce6e11c4a173","evidence_kind":"source_excerpt","locator":"Lines 520-532","start_line":520,"end_line":532,"excerpt":"### iodine-syn-duox2-organification\nA homozygous truncating DUOX2 mutation accompanied a complete iodide-organification defect in the severe permanent case in the 2002 series.\nCondition category: machinery_impairment\nnutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins.\norganism: Homo sapiens\ntissue_or_cell_type: Thyroid\nexperimental_model: Sequencing of nine newborn-screened patients with iodide-organification defects and their relatives\nlimitations: Small selected genetic series; no universal genotype-to-prognosis rule.\nexposure: Inherited DUOX2 truncation; no imposed dietary iodine restriction.\ncross_nutrient: false\nevidence_span: {\"source_cache\": \"artifacts/iodine-synthesis-sources/12110737.json\", \"json_field\": \"abstractText\", \"text_sha256\": \"a0fa87eb7c584eb2b54cdc1de43ef65dd31bb4b7300f06c5b9ff4a8f703a151e\", \"text_characters\": 1953, \"note\": \"Exact publisher passage retained in the cited local source cache; locator and digest supplied here.\"}\n[iodine-syn-duox2002] Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 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