{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T22:23:12Z","timestamp":1782944592636,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The C1QBP protein (complement component 1 Q subcomponent\u2010binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory\u2010chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late\u2010onset mild myopathy. We present two fetuses, one male and one female, of first\u2010cousin parents, with severe intrauterine growth retardation, oligo\/anhydramnios, edema, and cardiomyopathy as the most prominent prenatal symptoms. Both fetuses showed no copy number variants by chromosome microarray analysis. Analysis of a fibroblast culture from one of the fetuses showed deficiency of respiratory chain complex IV, and using exome sequencing, we identified homozygosity for a novel variant in <jats:italic>C1QBP<\/jats:italic> in both fetuses. To our knowledge, only six patients with pathogenic variants in <jats:italic>C1QBP<\/jats:italic> have been reported previously and with this report, we add a novel pathogenic variant in <jats:italic>C1QBP<\/jats:italic> found in two related fetuses.<\/jats:p>","DOI":"10.1002\/jmd2.12209","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T12:48:51Z","timestamp":1614948531000},"page":"20-25","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous variant in <scp><i>C1QBP<\/i><\/scp> causes severe <scp>IUGR<\/scp>, edema, and cardiomyopathy in two fetuses"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7338-088X","authenticated-orcid":false,"given":"Morten","family":"Alstrup","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen 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