{"entity": "publication", "iuid": "1f8a79ceab774d4ab2dbc31a933e7740", "timestamp": "2026-09-23T17:21:01.847Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1f8a79ceab774d4ab2dbc31a933e7740.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1f8a79ceab774d4ab2dbc31a933e7740"}}, "title": "Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.", "authors": [{"family": "Correia", "given": "Sandrina P", "initials": "SP"}, {"family": "Moedas", "given": "Marco F", "initials": "MF"}, {"family": "Naess", "given": "Karin", "initials": "K"}, {"family": "Bruhn", "given": "Helene", "initials": "H"}, {"family": "Maffezzini", "given": "Camilla", "initials": "C"}, {"family": "Calvo-Garrido", "given": "Javier", "initials": "J"}, {"family": "Lesko", "given": "Nicole", "initials": "N"}, {"family": "Wibom", "given": "Rolf", "initials": "R"}, {"family": "Schober", "given": "Florian A", "initials": "FA", "orcid": "0000-0003-4604-6170", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e526ebcc7b834f9a89e41542b5feeac1.json"}}, {"family": "Jemt", "given": "Anders", "initials": "A"}, {"family": "Stranneheim", "given": "Henrik", "initials": "H"}, {"family": "Freyer", "given": "Christoph", "initials": "C", "orcid": "0000-0003-0418-1673", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fba742fee9324f4ba469cc84a6bfd9c6.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A"}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1bd991602b184ab48a4dca93b7901466.json"}}], "type": "case reports", "published": "2021-04-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "42", "issue": "4", "pages": "378-384", "issn-l": "1059-7794"}, "abstract": "Mutations in structural subunits and assembly factors of complex I of the oxidative phosphorylation system constitute the most common cause of mitochondrial respiratory chain defects. Such mutations can present a wide range of clinical manifestations, varying from mild deficiencies to severe, lethal disorders. We describe a patient presenting intrauterine growth restriction and anemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Whole genome sequencing revealed an intronic biallelic mutation in the NDUFB7 gene (c.113-10C>G) and splicing pattern alterations in NDUFB7 messenger RNA were confirmed by RNA Sequencing. The detected variant resulted in a significant reduction of the NDUFB7 protein and reduced complex I activity. Complementation studies with expression of wild-type NDUFB7 in patient fibroblasts normalized complex I function. Here we report a case with a primary complex I defect due to a homozygous mutation in an intron region of the NDUFB7 gene.", "doi": "10.1002/humu.24173", "pmid": "33502047", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T11:56:37.171Z", "modified": "2026-09-23T11:56:37.240Z"}