A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders

Gianmaria Miolo, Maria Grazia Giuffrida, Giuseppe Corona, Anna Capalbo, Barbara Pivetta, Giovanni Tessitori, Laura Bernardini

Research output: Contribution to journalArticle


Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been determined. In this case report we describe two monochorionic-diamniotic twins with intellectual disability, abnormality of coordination and dysmorphic features associated with a de novo 280 kb mosaic microduplication of 1q32.1 chromosomal region, identified using a Chromosome Microarray Analysis (CMA) and confirmed by quantitative PCR analysis. The duplicated region encompassed entirely three OMIM genes KDM5B (*605393), KLHL12 (*614522), RABIF (*603417) and involved partially SYT2 (*600104). This unique case report allows to redefine the critical 1q32.1 microduplicated region implicated in the ethiopathogenesis of intellectual disability and developmental delay. Furthermore, it suggests that KDM5B gene can have a pivotal role in the development of neurodevelopmental disorders through its demethylase activity.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Publication statusAccepted/In press - Jan 1 2018



  • 1q32.1 region
  • Histone demethylase
  • KDM5B gene
  • Microduplication
  • Monochorionic-diamniotic twins
  • Mosaicism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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