MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito, Donatella Milani

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap comprises two genes: DPYD and MIR137. Case presentation: We describe a 10-year-old boy with syndromic obesity who carries a novel 1p21.3 deletion overlapping the critical region with the MIR137 gene only. Conclusions: This study suggests that MIR137 is the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalMolecular Cytogenetics
Volume9
Issue number1
DOIs
Publication statusPublished - Nov 3 2016

Keywords

  • 1p21.3
  • Array-CGH
  • Autism spectrum disorder
  • Genetics
  • Intellectual disability
  • MIR137
  • Obesity

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

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