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

doi:10.1186/s13039-016-0289-x

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1-5
Number of pages	5
Journal	Molecular Cytogenetics
Volume	9
Issue number	1
DOIs	https://doi.org/10.1186/s13039-016-0289-x
Publication status	Published - 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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AU - Tucci, Arianna

AU - Ciaccio, Claudia

AU - Scuvera, Giulietta

AU - Esposito, Susanna

AU - Milani, Donatella

PY - 2016/11/3

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N2 - 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.

AB - 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.

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KW - Genetics

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

Abstract

Keywords

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