9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms

Alessandro De Falco; Marie Vincent; Gaelle Vieville; Marjolaine Gauthier; Klaus Dieterich; Charles Coutton; Sara Loddo; Antonio Novelli; Bruno Dallapiccola; Maria Cristina Digilio; Silvana Briuglia; Laura Bernardini; Paolo Fontana; Agnieszka Madej-pilarczyk; Marlena Mlynek; Luigia De Falco; Fabio Acquaviva; Daniele De Brasi; Laurence Faivre; Lucie Dauver; Nouf Alnuaimi; Patrick Callier; Valentina Trevisan; Roberta Onesimo; Chiara Leoni; Giuseppe Zampino; Giovanni Neri; Geoffroy Delplancq; Laurence Perrin; Susan M. White; Renzo Guerrini; Davide Mei; Ilaria Sani; Marilena Pantaleo; Angela Peron; Nicola Brunetti-pierri

doi:10.1002/ajmg.a.64303

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms

Alessandro De Falco, Marie Vincent, Gaelle Vieville, Marjolaine Gauthier, Klaus Dieterich, Charles Coutton, Sara Loddo, Antonio Novelli, Bruno Dallapiccola, Maria Cristina Digilio, …

American journal of medical genetics. Part A, p.e64303

20/11/2025

DOI: https://doi.org/10.1002/ajmg.a.64303

PMID: 41267543

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelopmental impairment and recurrent facial anomalies. Following the identification of a de novo 9q34.11 microduplication involving the SET and SPTAN1 genes in an 11-year-old girl with speech delay, intellectual disability, and behavioral abnormalities, we identified 13 additional patients with overlapping duplications. Besides the neurodevelopmental disorder, clinical features observed among affected individuals included recurrent dysmorphic features, such as midface hypoplasia and thin lips. The minimal region of overlap among these cases contained the SET gene, suggesting that its triplosensitivity may play a role in the observed phenotypes.

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Titre: 9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Créateurs - sans rôle: Alessandro De Falco - Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy
Marie Vincent - CHU Nantes, Serv Genet, Nantes, France
Gaelle Vieville - Univ Grenoble Alpes, CHU Grenoble Alpes, Hop Couple Enfant, Serv Genet Genom & Procreat, La Tronche, France
Marjolaine Gauthier - Univ Grenoble Alpes, CHU Grenoble Alpes, Hop Couple Enfant, Serv Genet Genom & Procreat, La Tronche, France
Klaus Dieterich - Univ Grenoble Alpes, CHU Grenoble Alpes, Hop Couple Enfant, Serv Genet Genom & Procreat, La Tronche, France
Charles Coutton - Univ Grenoble Alpes, CHU Grenoble Alpes, Hop Couple Enfant, Serv Genet Genom & Procreat, La Tronche, France
Sara Loddo - Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, IRCCS, Rome, Italy
Antonio Novelli - Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, IRCCS, Rome, Italy
Bruno Dallapiccola - Bambino Gesu Pediat Hosp, Acad Dept Pediat, Med Genet Unit, IRCCS, Rome, Italy
Maria Cristina Digilio - Bambino Gesu Pediat Hosp, Acad Dept Pediat, Med Genet Unit, IRCCS, Rome, Italy
Silvana Briuglia - Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, Italy
Laura Bernardini - Casa Sollievo Sofferenza Fdn, IRCCS, Cytogenet Unit, Foggia, Italy
Paolo Fontana - AORN San Pio, Med Genet Unit, Benevento, Italy
Agnieszka Madej-pilarczyk - Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland
Marlena Mlynek - Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland
Luigia De Falco - Ctr Polidiagnost Strumentale SRL, AMES, Naples, Italy
Fabio Acquaviva - AORN Santobono Pausilipon, Dept Gen & Emergency Paediat, Med Genet Unit, Naples, Italy
Daniele De Brasi - AORN Santobono Pausilipon, Dept Gen & Emergency Paediat, Med Genet Unit, Naples, Italy
Laurence Faivre - Univ Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM,UMR1231,Equipe GAD,FHU TRANSLAD, Dijon, France
Lucie Dauver - Univ Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM,UMR1231,Equipe GAD,FHU TRANSLAD, Dijon, France
Nouf Alnuaimi - Univ Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM,UMR1231,Equipe GAD,FHU TRANSLAD, Dijon, France
Patrick Callier - CHU Dijon, Lab Cytogenet, Dijon, France
Valentina Trevisan - Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Genom Med Sect, Rome, Italy
Roberta Onesimo - Fdn Policlin Univ A Gemelli, IRCCS, Ctr Rare Dis, Dept Human & Child Hlth & Publ Hlth, Rome, Italy
Chiara Leoni - IRCCS Fdn Policlin Univ Agostino Gemelli, Pediat Unit, Rome, Italy
Giuseppe Zampino - Fdn Policlin Univ A Gemelli, IRCCS, Ctr Rare Dis, Dept Human & Child Hlth & Publ Hlth, Rome, Italy
Giovanni Neri - Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Genom Med Sect, Rome, Italy
Geoffroy Delplancq - Versailles Hosp, Constitut Genet Unit, Le Chesnay, France
Laurence Perrin - Robert Debre Hosp, Med Genet Unit, Paris, France
Susan M. White - Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Australia
Renzo Guerrini - Meyer Childrens Hosp IRCCS, Dept Neurosci & Med Genet, Pediat Neurol, Florence, Italy
Davide Mei - Meyer Childrens Hosp IRCCS, Dept Neurosci & Med Genet, Pediat Neurol, Florence, Italy
Ilaria Sani - Meyer Childrens Hosp IRCCS, Dept Neurosci & Med Genet, Med Genet, Florence, Italy
Marilena Pantaleo - Meyer Childrens Hosp IRCCS, Dept Neurosci & Med Genet, Med Genet, Florence, Italy
Angela Peron - Meyer Childrens Hosp IRCCS, Dept Neurosci & Med Genet, Med Genet, Florence, Italy
Nicola Brunetti-pierri - Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy
Détails de publication: American journal of medical genetics. Part A, p.e64303
Éditeur: Wiley
Nombre de pages: 12
Note de subvention: Ndegrees101156387 / European Union; European Union (EU) WT223718/Z/21/Z / Wellcome Trust
Identifiants: 99158776509311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article