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

doi:10.1002/ajmg.a.64303

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Article

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

American journal of medical genetics. Part A - 1 Mar 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41267543
DOI: 10.1002/ajmg.a.64303

Genes

SET
SPTAN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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