is the Key Gene Mediator of the Syndromic Obesity Phenotype of Patients with 1p21.3 Microdeletions

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2016 Nov 9

PMID 27822311

Citations 10

Authors

Arianna Tucci

Claudia Ciaccio

Giulietta Scuvera

Susanna Esposito

Donatella Milani

Affiliations

Soon will be listed here.

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: and .

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 gene only.

Conclusions: This study suggests that is the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions.

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