The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

Elise Pisan¹, Chiara De Luca², Francesco Brancati^{2

3}, Rossana Sanchez Russo⁴, Dong Li^{5

6

7}, Elizabeth Bhoj^{5

6

7}, Tara Wenger⁸, Ashish Marwaha⁹, Nicole Johnson⁹, Claire Beneteau¹⁰, Elise Brischoux-Boucher¹¹, Gunnar Houge¹², Julie Paulsen¹³, Trine Bjørg Hammer^{14

15}, Jakob Ek¹⁵, Daniela Schweitzer¹⁶, Bianca E Russell¹⁶, Marina Dutra-Clarke¹⁶, Stanley Nelson¹⁶, Emilie D Douine¹⁶, Rosario I Corona¹⁶, Tracy Dudding¹⁷, Hannah Thomson¹⁷, Karen Low¹⁸, Newell Belnap¹⁹, Maria Iascone²⁰, Manuela Priolo²¹, Diana Carli^{22

23}, Alessandro Mussa²⁴, Emilia K Bijlsma²⁵, Nathan Kopp²⁶, Jean-Philippe Jais²⁷, Jeanne Amiel^{1

28}, Christopher T Gordon¹

Affiliations

¹ Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.
² Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
³ Human Functional Genomics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome 00163, Italy.
⁴ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.
⁵ Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
⁶ Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.
⁷ Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.
⁸ Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105.
⁹ Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
¹⁰ Service de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France.
¹¹ Centre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France.
¹² Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway.
¹³ Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway.
¹⁴ Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
¹⁵ Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark.
¹⁶ Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
¹⁷ Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
¹⁸ Department of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom.
¹⁹ Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012.
²⁰ Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy.
²¹ Unit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy.
²² Department of Medical Sciences, University of Torino, Torino 10124, Italy.
²³ Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.
²⁴ Pediatric Clinical Genetics Unit, Ospedale Infantile Regina Margherita, Department of Public Health and Pediatric Sciences, University of Torino, Torino 10126, Italy.
²⁵ Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
²⁶ Department of Pathology, Medical College of Wisconsin, Milwaukee, WI 53223.
²⁷ Biostatistics Unit, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.
²⁸ Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.

PMID: 38466850
PMCID: PMC10962964
DOI: 10.1073/pnas.2317601121

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

Elise Pisan et al. Proc Natl Acad Sci U S A. 2024.

. 2024 Mar 19;121(12):e2317601121.

doi: 10.1073/pnas.2317601121. Epub 2024 Mar 11.

Authors

Affiliations

¹ Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.
² Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
³ Human Functional Genomics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome 00163, Italy.
⁴ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.
⁵ Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
⁶ Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.
⁷ Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.
⁸ Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105.
⁹ Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
¹⁰ Service de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France.
¹¹ Centre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France.
¹² Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway.
¹³ Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway.
¹⁴ Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
¹⁵ Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark.
¹⁶ Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
¹⁷ Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
¹⁸ Department of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom.
¹⁹ Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012.
²⁰ Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy.
²¹ Unit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy.
²² Department of Medical Sciences, University of Torino, Torino 10124, Italy.
²³ Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.
²⁴ Pediatric Clinical Genetics Unit, Ospedale Infantile Regina Margherita, Department of Public Health and Pediatric Sciences, University of Torino, Torino 10126, Italy.
²⁵ Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
²⁶ Department of Pathology, Medical College of Wisconsin, Milwaukee, WI 53223.
²⁷ Biostatistics Unit, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.
²⁸ Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.

PMID: 38466850
PMCID: PMC10962964
DOI: 10.1073/pnas.2317601121

No abstract available

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Conflict of interest statement

Competing interests statement:The authors declare no competing interest.

References

1. Tokita M. J., et al. , De novo missense variants in TRAF7 cause developmental delay, congenital anomalies, and dysmorphic features. Am. J. Hum. Genet. 103, 154–162 (2018). - PMC - PubMed
1. Castilla-Vallmanya L., et al. , Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet. Med. 22, 1215–1226 (2020). - PMC - PubMed
1. Mishra-Gorur K., et al. , Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proc. Natl. Acad. Sci. U.S.A. 120, e2214997120 (2023). - PMC - PubMed
1. Accogli A., et al. , Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder. Birth Defects Res. 112, 1085–1092 (2020). - PubMed
1. Paprocka J., et al. , Case report: Blepharophimosis and ptosis as leading dysmorphic features of rare congenital malformation syndrome with developmental delay—new cases with TRAF7 variants. Front. Med. (Lausanne) 8, 708717 (2021). - PMC - PubMed

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The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

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The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

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Conflict of interest statement

References

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