Abstract
In this chapter, we discuss the different factors to consider when evaluating patients with a suspected genetic endocrine disorder so as to guide practitioners through the process of genetic testing and interpretation of results. Clinical examples will be used to highlight the general principles of when and how to use genetic information in the clinical care of patients. Recent advances in our understanding of genetics and genomics are discussed, as well as their implications on the diagnosis and management of rare Mendelian disorders such as multiple endocrine neoplasia type 1, but also multifactorial disorders with a strong genetic component, such as type 2 diabetes mellitus. The reader will hopefully be able to use the information in this chapter as a practical guide on the clinical significance and utility of genetic testing for heritable endocrine disorders.
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References
Billings LK, Florez JC. The genetics of type 2 diabetes: what have we learned from GWAS? Ann N Y Acad Sci. 2010;1212:59–77.
Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445(7130):881–5.
Maes HH, Neale MC, Eaves LJ. Eaves genetic and environmental factors in relative body weight and human obesity. Behav Genet. 2005;27:325–51.
Loos RJ. Genetic determinants of common obesity and their value in prediction. Best Pract Res Clin Endocrinol Metab. 2012;2012(26):2.
Nussbaum RL, Mcinnes RR, Willard HF, editors. Genetics in medicine. 7th ed. Philadelphia: Saunders Elsevier; 2007.
Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW, et al. American College of Medical Genetics and Genomics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal settingfor detection of constitutional abnormalities. Genet Med. 2010;13(6):676–9.
ACMG Board of Directors Genetics in Medicine. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012;14:759–61.
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42(1):30–5.
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010;467(7312):207–10.
Roach JC, Glusman G, Smit AFA, Huff CD, Hubley R, Shannon PT, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2011;328(5978):636–9.
American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19(6):565–612.
Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat. 1998;12:417–23.
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Kirmani, S. (2014). Genetic Testing in Endocrinology. In: Bandeira, F., Gharib, H., Golbert, A., Griz, L., Faria, M. (eds) Endocrinology and Diabetes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8684-8_1
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DOI: https://doi.org/10.1007/978-1-4614-8684-8_1
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