A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Abstract The C1QBP protein (complement component 1 Q subcomponent‐binding 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‐chain deficiencies with...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-05-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12209 |
| _version_ | 1818779102525521920 |
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| author | Morten Alstrup Ida Vogel Puk Sandager Jenny Blechingberg Naja Becher Elsebet Østergaard |
| author_facet | Morten Alstrup Ida Vogel Puk Sandager Jenny Blechingberg Naja Becher Elsebet Østergaard |
| author_sort | Morten Alstrup |
| collection | DOAJ |
| description | Abstract The C1QBP protein (complement component 1 Q subcomponent‐binding 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‐chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late‐onset mild myopathy. We present two fetuses, one male and one female, of first‐cousin 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 C1QBP in both fetuses. To our knowledge, only six patients with pathogenic variants in C1QBP have been reported previously and with this report, we add a novel pathogenic variant in C1QBP found in two related fetuses. |
| first_indexed | 2024-12-18T11:55:17Z |
| format | Article |
| id | doaj.art-3a27870e6e52468cb9e9eb302ca6ca16 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-18T11:55:17Z |
| publishDate | 2021-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-3a27870e6e52468cb9e9eb302ca6ca162022-12-21T21:09:04ZengWileyJIMD Reports2192-83122021-05-01591202510.1002/jmd2.12209A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetusesMorten Alstrup0Ida Vogel1Puk Sandager2Jenny Blechingberg3Naja Becher4Elsebet Østergaard5Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Hospital Aarhus DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Hospital Aarhus DenmarkDepartment of Clinical Genetics Aarhus University Hospital Aarhus DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Hospital Aarhus DenmarkDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen DenmarkAbstract The C1QBP protein (complement component 1 Q subcomponent‐binding 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‐chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late‐onset mild myopathy. We present two fetuses, one male and one female, of first‐cousin 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 C1QBP in both fetuses. To our knowledge, only six patients with pathogenic variants in C1QBP have been reported previously and with this report, we add a novel pathogenic variant in C1QBP found in two related fetuses.https://doi.org/10.1002/jmd2.12209C1QBPcardiomyopathyIUGRmitochondrialprenatal phenotype |
| spellingShingle | Morten Alstrup Ida Vogel Puk Sandager Jenny Blechingberg Naja Becher Elsebet Østergaard A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses JIMD Reports C1QBP cardiomyopathy IUGR mitochondrial prenatal phenotype |
| title | A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses |
| title_full | A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses |
| title_fullStr | A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses |
| title_full_unstemmed | A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses |
| title_short | A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses |
| title_sort | novel homozygous variant in c1qbp causes severe iugr edema and cardiomyopathy in two fetuses |
| topic | C1QBP cardiomyopathy IUGR mitochondrial prenatal phenotype |
| url | https://doi.org/10.1002/jmd2.12209 |
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