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

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-o...

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Autores principales: Tucci, Arianna, Ciaccio, Claudia, Scuvera, Giulietta, Esposito, Susanna, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093957/
https://www.ncbi.nlm.nih.gov/pubmed/27822311
http://dx.doi.org/10.1186/s13039-016-0289-x
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author Tucci, Arianna
Ciaccio, Claudia
Scuvera, Giulietta
Esposito, Susanna
Milani, Donatella
author_facet Tucci, Arianna
Ciaccio, Claudia
Scuvera, Giulietta
Esposito, Susanna
Milani, Donatella
author_sort Tucci, Arianna
collection PubMed
description 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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spelling pubmed-50939572016-11-07 MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions Tucci, Arianna Ciaccio, Claudia Scuvera, Giulietta Esposito, Susanna Milani, Donatella Mol Cytogenet Case Report 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. BioMed Central 2016-11-03 /pmc/articles/PMC5093957/ /pubmed/27822311 http://dx.doi.org/10.1186/s13039-016-0289-x Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Tucci, Arianna
Ciaccio, Claudia
Scuvera, Giulietta
Esposito, Susanna
Milani, Donatella
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title_full MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title_fullStr MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title_full_unstemmed MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title_short MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
title_sort mir137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093957/
https://www.ncbi.nlm.nih.gov/pubmed/27822311
http://dx.doi.org/10.1186/s13039-016-0289-x
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