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.
Original language | English |
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Pages (from-to) | 1-5 |
Number of pages | 5 |
Journal | Molecular Cytogenetics |
Volume | 9 |
Issue number | 1 |
DOIs | |
Publication status | Published - Nov 3 2016 |
Keywords
- 1p21.3
- Array-CGH
- Autism spectrum disorder
- Genetics
- Intellectual disability
- MIR137
- Obesity
ASJC Scopus subject areas
- Biochemistry
- Molecular Medicine
- Molecular Biology
- Genetics
- Genetics(clinical)
- Biochemistry, medical