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Related Experiment Video

Updated: Jan 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent

Alessandro De Falco1,2,3, Marie Vincent4,5, Gaëlle Vieville6

  • 1Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

American Journal of Medical Genetics. Part A
|November 21, 2025
PubMed
Summary

A novel 9q34.11 microduplication syndrome causes neurodevelopmental impairment and distinct facial anomalies. The SET gene

Keywords:
SET gene9q34.11 microduplicationneurodevelopmental disorder

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Copy number variants (CNVs) are significant contributors to neurodevelopmental disorders.
  • New CNV syndromes remain to be identified.

Purpose of the Study:

  • To characterize a newly identified 9q34.11 microduplication syndrome.
  • To investigate the genetic basis of neurodevelopmental impairment and facial anomalies associated with this microduplication.

Main Methods:

  • Case identification and detailed clinical phenotyping.
  • Molecular karyotyping to detect copy number variations.
  • Comparative genomic hybridization (CGH) array analysis to define the duplication region.

Main Results:

  • A de novo 9q34.11 microduplication was identified in an 11-year-old girl with speech delay, intellectual disability, and behavioral issues.
  • Thirteen additional patients with overlapping duplications were found, sharing neurodevelopmental deficits and facial dysmorphisms like midface hypoplasia and thin lips.
  • The SET gene was consistently included in the minimal region of overlap, indicating its potential triplosensitivity.

Conclusions:

  • The 9q34.11 microduplication represents a distinct syndrome associated with neurodevelopmental and craniofacial abnormalities.
  • The SET gene is implicated as a likely driver of the observed phenotypes due to its triplosensitivity.