Title |
Genomic screening for monogenic forms of diabetes
|
---|---|
Published in |
BMC Medicine, February 2018
|
DOI | 10.1186/s12916-018-1012-z |
Pubmed ID | |
Authors |
Leslie G. Biesecker |
Abstract |
Adult-onset, or type II diabetes mellitus (T2DM) has a complex genetic architecture, from hundreds of genes with low penetrance, common susceptibility variants (e.g., TCF7L2), to a set of more than ten genes that, when mutated, can cause a single-gene or Mendelian form of T2DM (e.g., GCK). It is a clinical challenge to identify patients with the uncommon (2-3%) form of T2DM, typically classified as maturity-onset diabetes of the young (MODY). Bansal et al. (BMC Med 15:213, 2017) used a gene panel test approach to test patients with diabetes for single-gene causes of MODY. They found that nearly 2% of younger patients had pathogenic variants in one of seven genes. These data confirm prior studies showing that Mendelian or single-gene MODY can masquerade as garden variety T2DM. The implications of these results for wider general medicine and the future implementation of clinical genome sequencing are discussed.Please see related article: https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0977-3. |
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Scientists | 2 | 50% |
Practitioners (doctors, other healthcare professionals) | 2 | 50% |
Mendeley readers
Geographical breakdown
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Student > Master | 5 | 20% |
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Student > Ph. D. Student | 3 | 12% |
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Other | 3 | 12% |
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Agricultural and Biological Sciences | 2 | 8% |
Other | 0 | 0% |
Unknown | 4 | 16% |