Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes

Author:

Wu Hui-Xuan,Li Long,Zhang Hong,Tang Jun,Zhang Mei-Biao,Tang Hao-Neng,Guo Yue,Zhou Zhi-Guang,Zhou Hou-DeORCID

Funder

National Natural Science Foundation of China

Hunan Provincial Science and Technology Department

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference41 articles.

1. American Diabetes Association, 2. Classification and diagnosis of diabetes: standards of medical care in diabetes-2020. Diabetes care 43(Suppl 1), S14–S31 (2020). https://doi.org/10.2337/dc20-S002

2. M. W. Mitchel, D. Moreno-De-Luca, S. M. Myers, B. Finucane, D. H. Ledbetter, C. L. Martin, 17q12 Recurrent Deletion Syndrome. In: M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens, A. Amemiya, (eds.) GeneReviews((R)). Seattle (WA) (1993)

3. E.L. Edghill, R.A. Oram, M. Owens, K.L. Stals, L.W. Harries, A.T. Hattersley, S. Ellard, C. Bingham, Hepatocyte nuclear factor-1beta gene deletions–a common cause of renal disease. Nephrol. Dial. Transplant 23(2), 627–635 (2008). https://doi.org/10.1093/ndt/gfm603

4. H. Stefansson, A. Meyer-Lindenberg, S. Steinberg, B. Magnusdottir, K. Morgen, S. Arnarsdottir, G. Bjornsdottir, G.B. Walters, G.A. Jonsdottir, O.M. Doyle, H. Tost, O. Grimm, S. Kristjansdottir, H. Snorrason, S.R. Davidsdottir, L.J. Gudmundsson, G.F. Jonsson, B. Stefansdottir, I. Helgadottir, M. Haraldsson, B. Jonsdottir, J.H. Thygesen, A.J. Schwarz, M. Didriksen, T.B. Stensbol, M. Brammer, S. Kapur, J.G. Halldorsson, S. Hreidarsson, E. Saemundsen, E. Sigurdsson, K. Stefansson, CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 505(7483), 361–366 (2014). https://doi.org/10.1038/nature12818

5. C. Bellanne-Chantelot, S. Clauin, D. Chauveau, P. Collin, M. Daumont, C. Douillard, D. Dubois-Laforgue, L. Dusselier, J.F. Gautier, M. Jadoul, M. Laloi-Michelin, L. Jacquesson, E. Larger, J. Louis, M. Nicolino, J.F. Subra, J.M. Wilhem, J. Young, G. Velho, J. Timsit, Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54(11), 3126–3132 (2005). https://doi.org/10.2337/diabetes.54.11.3126

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