OBJECTIVE: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. SUBJECTS AND METHODS: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. RESULTS: Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. CONCLUSIONS: Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.
OBJECTIVE: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. SUBJECTS AND METHODS: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. RESULTS: Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. CONCLUSIONS: Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.
Authors: Adeline K Nicholas; Eva G Serra; Hakan Cangul; Saif Alyaarubi; Irfan Ullah; Erik Schoenmakers; Asma Deeb; Abdelhadi M Habeb; Mohammad Almaghamsi; Catherine Peters; Nisha Nathwani; Zehra Aycan; Halil Saglam; Ece Bober; Mehul Dattani; Savitha Shenoy; Philip G Murray; Amir Babiker; Ruben Willemsen; Ajay Thankamony; Greta Lyons; Rachael Irwin; Raja Padidela; Kavitha Tharian; Justin H Davies; Vijith Puthi; Soo-Mi Park; Ahmed F Massoud; John W Gregory; Assunta Albanese; Evelien Pease-Gevers; Howard Martin; Kim Brugger; Eamonn R Maher; V Krishna K Chatterjee; Carl A Anderson; Nadia Schoenmakers Journal: J Clin Endocrinol Metab Date: 2016-08-15 Impact factor: 5.958