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.

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions / A. Tucci, C. Ciaccio, G. Scuvera, S. Esposito, D. Milani. - In: MOLECULAR CYTOGENETICS. - ISSN 1755-8166. - 9:1(2016), pp. 80.1-80.5. [10.1186/s13039-016-0289-x]

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

A. Tucci
Primo
;
C. Ciaccio
Secondo
;
G. Scuvera;S. Esposito
Penultimo
;
D. Milani
2016

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.
1p21.3; Array-CGH; Autism spectrum disorder; Genetics; Intellectual disability; MIR137; Obesity; Biochemistry; Molecular Medicine; Molecular Biology; Genetics; Genetics (clinical); Biochemistry (medical)
Settore MED/38 - Pediatria Generale e Specialistica
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/490716
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