MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Articolo
Data di Pubblicazione:
2016
Citazione:
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]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
1p21.3; Array-CGH; Autism spectrum disorder; Genetics; Intellectual disability; MIR137; Obesity; Biochemistry; Molecular Medicine; Molecular Biology; Genetics; Genetics (clinical); Biochemistry (medical)
Elenco autori:
A. Tucci, C. Ciaccio, G. Scuvera, S. Esposito, D. Milani
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