Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants o...
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MDPI AG
2023-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/3/563 |
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| author | Katarzyna Bzdęga Anna Kutkowska-Kaźmierczak Gail H. Deutsch Izabela Plaskota Marta Smyk Magdalena Niemiec Artur Barczyk Ewa Obersztyn Jan Modzelewski Iwona Lipska Paweł Stankiewicz Marzena Gajecka Małgorzata Rydzanicz Rafał Płoski Tomasz Szczapa Justyna A. Karolak |
| author_facet | Katarzyna Bzdęga Anna Kutkowska-Kaźmierczak Gail H. Deutsch Izabela Plaskota Marta Smyk Magdalena Niemiec Artur Barczyk Ewa Obersztyn Jan Modzelewski Iwona Lipska Paweł Stankiewicz Marzena Gajecka Małgorzata Rydzanicz Rafał Płoski Tomasz Szczapa Justyna A. Karolak |
| author_sort | Katarzyna Bzdęga |
| collection | DOAJ |
| description | Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the <i>FOXF1</i> gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the <i>FOXF1</i> gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management. |
| first_indexed | 2024-03-11T06:30:19Z |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T06:30:19Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-b62d4062e6ea42ff95ace9a4a03ee7d12023-11-17T11:16:18ZengMDPI AGGenes2073-44252023-02-0114356310.3390/genes14030563Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and HydronephrosisKatarzyna Bzdęga0Anna Kutkowska-Kaźmierczak1Gail H. Deutsch2Izabela Plaskota3Marta Smyk4Magdalena Niemiec5Artur Barczyk6Ewa Obersztyn7Jan Modzelewski8Iwona Lipska9Paweł Stankiewicz10Marzena Gajecka11Małgorzata Rydzanicz12Rafał Płoski13Tomasz Szczapa14Justyna A. Karolak15Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-806 Poznan, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, WA 98105, USADepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland1st Clinic of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, 01-004 Warsaw, PolandDepartment of Pathomorphology, Wolski Hospital, 01-211 Warsaw, PolandDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USAChair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-806 Poznan, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandII Department of Neonatology, Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, Poznan University of Medical Science, 60-535 Poznan, PolandChair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-806 Poznan, PolandAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the <i>FOXF1</i> gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the <i>FOXF1</i> gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management.https://www.mdpi.com/2073-4425/14/3/563lethal lung developmental disorderhydronephrosisalveolar capillary dysplasia16q24.1prenatal diagnosisgenome sequencing |
| spellingShingle | Katarzyna Bzdęga Anna Kutkowska-Kaźmierczak Gail H. Deutsch Izabela Plaskota Marta Smyk Magdalena Niemiec Artur Barczyk Ewa Obersztyn Jan Modzelewski Iwona Lipska Paweł Stankiewicz Marzena Gajecka Małgorzata Rydzanicz Rafał Płoski Tomasz Szczapa Justyna A. Karolak Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis Genes lethal lung developmental disorder hydronephrosis alveolar capillary dysplasia 16q24.1 prenatal diagnosis genome sequencing |
| title | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis |
| title_full | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis |
| title_fullStr | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis |
| title_full_unstemmed | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis |
| title_short | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis |
| title_sort | prenatal detection of a i foxf1 i deletion in a fetus with acdmpv and hydronephrosis |
| topic | lethal lung developmental disorder hydronephrosis alveolar capillary dysplasia 16q24.1 prenatal diagnosis genome sequencing |
| url | https://www.mdpi.com/2073-4425/14/3/563 |
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