ArticleAmerican journal of medical genetics. Part A2010
Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 53 citations in OpenAlex.
- A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.BMC medical genomics · 2023Review
- New Insights on the Role ofFrontiers in molecular biosciences · 2020Review
- A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.Journal of human genetics · 2016Article
- Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.Journal of assisted reproduction and genetics · 2015Review
- Overexpression of the fat mass and obesity associated gene (FTO) in breast cancer and its clinical implications.International journal of clinical and experimental pathology · 2015Article
- Modify or die?--RNA modification defects in metazoans.RNA biology · 2014Review
- A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.European journal of human genetics : EJHG · 2013Article
- An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors.The Journal of clinical endocrinology and metabolism · 2013Article
- FTO levels affect RNA modification and the transcriptome.European journal of human genetics : EJHG · 2013Article
- The genetics of attention deficit/hyperactivity disorder in adults, a review.Molecular psychiatry · 2012Review
- Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.Croatian medical journal · 2011Article
- Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Current genomics · 2011Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this article, we describe a more detailed analysis of the genetic anomaly in this patient. We were particularly interested in the involvement of the fat mass and obesity associated gene (FTO) in her duplication. Single nucleotide polymorphisms in FTO have been associated with obesity. The breakpoints of the duplication were precisely mapped using high-resolution oligonucleotide array comparative genomic hybridization (CGH). We found that the duplication spans 11.45 Mb on 16q11.2 to 16q13 and it includes FTO. The increased copy number of FTO was confirmed with a qPCR on genomic DNA of the patient. We investigated the influence of the increased FTO copy number on FTO gene expression in immortalized lymphocytes from the patient using qPCR. No evidence of increased FTO expression was detected in the patient's lymphocytes. We discuss these findings and we review clinical findings in patients with overlapping 16q duplications to determine the relationship between increased FTO copy number and obesity. Our review suggests that duplication of the FTO gene does not necessarily result in obesity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.