Search for Novel Mutational Targets in Human Endocrine Diseases

• Published in: Endocrinology and metabolism (Seoul) Vol. 34; no. 1; pp. 23 - 28
• Main Authors: Park, So Young, Seo, Myeong Han, Lee, Sihoon
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Endocrine Society 01.03.2019; 대한내분비학회
• Subjects: Cytogenetics - methods; Endocrine System Diseases - diagnosis; Endocrine System Diseases - genetics; Endocrinology; Endocrinology - methods; Genes; Genetic Testing - methods; Genomics; Genomics - methods; High-throughput nucleotide sequencing; High-Throughput Nucleotide Sequencing - methods; Humans; Hypocalcemia - etiology; Mutation; Polymorphism, Single Nucleotide - genetics; Review; Whole Genome Sequencing - methods; 내과학; Mutation; Genes; Genomics; Endocrinology; High-throughput nucleotide sequencing
• ISSN: 2093-596X; 2093-5978
• DOI: 10.3803/EnM.2019.34.1.23

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.