Endocrinol Metab.  2019 Mar;34(1):23-28. 10.3803/EnM.2019.34.1.23.

Search for Novel Mutational Targets in Human Endocrine Diseases

Affiliations
  • 1Department of Internal Medicine, Cheil General Hospital & Women's Healthcare Center, Seoul, Korea.
  • 2Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea. shleemd@gachon.ac.kr

Abstract

The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.

Keyword

Genes; Mutation; Endocrinology; Genomics; High-throughput nucleotide sequencing

MeSH Terms

Diagnosis
Endocrine System Diseases*
Endocrinology
Genetic Testing
Genetic Variation
Genetics
Genomics
High-Throughput Nucleotide Sequencing
Humans*
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