The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism

• Published in: International journal of preventive medicine Vol. 4; no. 1; pp. 57 - 62
• Main Authors: Mostofizade, Neda, Nikpour, Parvaneh, Javanmard, Shaghayegh Haghjooy, Emadi-Baygi, Modjtaba, Miranzadeh-Mahabadi, Hajar, Hovsepian, Silva, Hashemipour, Mahin
• Format: Journal Article
• Language: English
• Published: Iran Medknow Publications & Media Pvt. Ltd 01.01.2013; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Cloning; Congenital diseases; Congenital hypothyroidism; Deoxyribonucleic acid; DNA; dyshormonogenesis; Endocrinology; Families & family life; G395R; Genes; Genetic counseling; Genetics; Hypothyroidism; Laboratories; Metabolism; Mutation; Original; Pediatrics; Physiology; Polymerase chain reaction; Research centers; Sodium; sodium/iodide symporter (NIS) gene; Thyroid gland; mutation; G395R; sodium/iodide symporter (NIS) gene; dyshormonogenesis; Congenital hypothyroidism
• ISSN: 2008-7802; 2008-8213

Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis In this case-control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method. In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients' group. Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.