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Case Reports
. 2016 Nov 3:9:80.
doi: 10.1186/s13039-016-0289-x. eCollection 2016.

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

Arianna Tucci  1 , Claudia Ciaccio  1 , Giulietta Scuvera  1 , Susanna Esposito  1 , Donatella Milani  1
Affiliations
Case Reports

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

Arianna Tucci et al. Mol Cytogenet. .

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.

Keywords: 1p21.3; Array-CGH; Autism spectrum disorder; Genetics; Intellectual disability; MIR137; Obesity.

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Figures

Fig. 1
Fig. 1
Chromosome 1p21.3 microdeletions described to date. Minimal region of overlap highlighted by the dashed orange lines. The figure was drawn according to the UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) assembly
See this image and copyright information in PMC

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