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

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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Journal
American Journal of Medical Genetics Part A
Published
2025-11-20
DOI
https://doi.org/10.1002/ajmg.a.64303
Primary Topic
Williams Syndrome Research
Type
article
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article

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

Giovanni Neri, Agnieszka Madej‐Pilarczyk, Renzo Guerrini, Bruno Dallapiccola et al.
American Journal of Medical Genetics Part A
Williams Syndrome Research
article

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

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

Abstract

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.

American Journal of Medical Genetics Part AVol. 200(3)
Università Cattolica del Sacro Cuore (IT), University of Messina (IT), Centre National de la Recherche Scientifique (FR), Inserm (FR), University of Sannio (IT), The University of Melbourne (AU), Université de Bourgogne (FR), Casa Sollievo della Sofferenza (IT), Centre Hospitalier Universitaire de Grenoble (FR), Regione Campania (IT), Agostino Gemelli University Polyclinic (IT), Centre Hospitalier Universitaire de Nantes (FR), European Society for Sexual Medicine (IT), Hôpital Couple Enfant (FR), Saint Camillus International University of Health and Medical Sciences (IT), Assistance Publique – Hôpitaux de Paris (FR), Victorian Clinical Genetics Services (AU), Meyer Children's Hospital (IT), Children's Memorial Health Institute (PL), CHU Dijon Bourgogne (FR), Bambino Gesù Children's Hospital (IT), Santobono Children's Hospital (IT), Hôpital Robert-Debré (FR), Centre d'Investigation Clinique de Nantes (FR), Institut du Thorax (FR), Scuola Superiore Meridionale (IT), Murdoch Children's Research Institute (AU), Grenoble Institute of Neurosciences (FR), Telethon Institute Of Genetics And Medicine (IT), Génétique Médicale & Génomique Fonctionelle (FR), Centre Hospitalier de Versailles (FR), University of Florence (IT), University of Naples Federico II (IT), Université Grenoble Alpes (FR), Nantes Université (FR)
Wellcome Trust, European Bioinformatics Institute, European Commission
Openalex Percentile: Top 60%
Williams Syndrome Research
DOIOpen Access PDFOpenAlex
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