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; Esposito, Susanna Maria Roberta; D., Milani. - In: MOLECULAR CYTOGENETICS. - ISSN 1755-8166. - 9:1(2016), pp. 1-5. [10.1186/s13039-016-0289-x]
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Esposito, Susanna Maria Roberta;
2016-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
