Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
| Title: | Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis. |
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| Authors: | Favier M; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; SoFFoet - Société Française de Foetopathologie, Paris, France.; Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; Pyle LC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Mottet N; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Auber-Lenoir M; Département de Radiologie, Imagerie pédiatrique, prénatale et sénologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Cattin J; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Dahlen E; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Cabrol C; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; Arbez-Gindre F; Anatomie et cytologie pathologiques, Foetopathologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Attié-Bitach T; Laboratoire de biologie médicale multisites SeqOIA, Assistance Publique Hôpitaux de Paris, Paris, France.; Institut Imagine, INSERM U1163, Université Paris Descartes, Paris, France.; Boute O; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France.; Devisme L; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France.; Trost D; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France.; Boughalem A; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France.; Chitayat D; Mount Sinai Hospital, University of Toronto, Toronto, Canada.; Prasov L; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Rein-Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Kassif E; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.; Weissbach T; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.; Hendon LG; Mississippi Medical Center, Jackson, Mississippi, USA.; Adam MP; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Quelin C; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de génétique clinique, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.; Jaillard S; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.; Mary L; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.; Aukema SM; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.; Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Stegmann S; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Badalato L; Department of Pediatrics, Kingstone General Hospital, Queen's University, Kingston, Canada.; Ben-Yehuda A; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.; Beneteau C; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Université de Bordeaux, Bordeaux, France.; Forey PL; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Grenoble, Université de Grenoble, Grenoble, France.; Kuentz P; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France. |
| Source: | Prenatal diagnosis [Prenat Diagn] 2024 Dec; Vol. 44 (13), pp. 1647-1658. Date of Electronic Publication: 2024 Nov 14. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Language: | English |
| Journal Info: | Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Chichester, [Sussex]; New York : Wiley, c1981- |
| MeSH Terms: | Heart Defects, Congenital*/diagnostic imaging ; Heart Defects, Congenital*/diagnosis ; Heart Defects, Congenital*/genetics ; Urogenital Abnormalities*/diagnostic imaging ; Urogenital Abnormalities*/genetics ; Urogenital Abnormalities*/diagnosis; Prenatal Diagnosis/methods ; Humans ; Female ; Pregnancy ; Male ; Ultrasonography, Prenatal ; Adult ; Infant, Newborn |
| Abstract: | Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.; Methods: Detailed radiographic, pathological, clinical, and molecular data from 12 prenatal cases were collected through an international collaborative study. Adding the five fetuses previously published, we were able to study a cohort of 17 cases.; Results: Main ultrasound-accessible manifestations of MYRF-CUGS include congenital heart defects (13/17, 76%), congenital diaphragmatic hernia (10/17, 59%) and disorders of sexual differentiation in 46, XY fetuses (7/14; 50%). Postnatal examination and/or autopsy data highlighted additional birth defects and neurological findings with a large spectrum of severity. Molecular results revealed ten previously unpublished variants, one missense and nine predicted truncating variants (three frameshift, three nonsense and three splice site variants).; Conclusion: We report the first prenatal cohort of MYRF-CUGS, allowing us to further characterize the variable expressivity of this rare disorder in fetuses. Severe congenital anomalies with a poor prognosis are more frequent than previously described in postnatal cases. Our data suggest that MYRF-CUGS is characterized by a recurrent recognizable malformative association, accessible to prenatal diagnosis, with a significant intrafamilial phenotypic variability making genetic counseling challenging.; (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.) |
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| Grant Information: | K08 CA248704 United States CA NCI NIH HHS; K08 EY032098 United States EY NEI NIH HHS |
| Entry Date(s): | Date Created: 20241114 Date Completed: 20241209 Latest Revision: 20260306 |
| Update Code: | 20260306 |
| PubMed Central ID: | PMC11628210 |
| DOI: | 10.1002/pd.6700 |
| PMID: | 39542847 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Extramural