Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

Thyroid ◽  
2009 ◽  
Vol 19 (12) ◽  
pp. 1419-1425 ◽  
Author(s):  
Lucia Montanelli ◽  
Patrizia Agretti ◽  
Giuseppina de Marco ◽  
Brunella Bagattini ◽  
Claudia Ceccarelli ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Late Onset ◽  
Novel Mutation ◽  
Family Members ◽  
Sodium Iodide Symporter ◽  
Identification And Characterization

Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism

Thyroid ◽  
2019 ◽  
Vol 29 (7) ◽  
pp. 1023-1026 ◽  
Author(s):  
Mariano Martín ◽  
Carlos Eduardo Bernal Barquero ◽  
Romina Celeste Geysels ◽  
Patricia Papendieck ◽  
Victoria Peyret ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Compound Heterozygous ◽  
Sodium Iodide Symporter ◽  
Pathogenic Variants

scholarly journals Identification and Characterization of a Novel Mutation M579Fs+75X in HERG

2011 ◽  
Vol 27 (Supplement) ◽  
pp. PJ3_045
Author(s):  
Yukiko Hata ◽  
Hisashi Mori ◽  
Ayumi Tanaka ◽  
Yosuke Fujita ◽  
Takeshi Shimomura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Identification And Characterization

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

scholarly journals Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

2018 ◽  
Vol Volume 14 ◽  
pp. 867-870 ◽  
Author(s):  
Willem Verhoeven ◽  
Jos Egger ◽  
Emmy Räkers ◽  
Arjen van Erkelens ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Older Adult ◽  
Adult Male ◽  
Late Onset ◽  
Novel Mutation ◽  
Phenotypic Characterization

An intramolecular ionic interaction linking defective sodium/iodide symporter transport to the plasma membrane and dyshormonogenic congenital hypothyroidism

Thyroid ◽  
2021 ◽  
Author(s):  
Carlos Eduardo Bernal Barquero ◽  
Mariano Martín ◽  
Romina Celeste Geysels ◽  
Victoria Peyret ◽  
Patricia Papendieck ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Sodium Iodide Symporter ◽  
Ionic Interaction

scholarly journals Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population

Oncotarget ◽  
2017 ◽  
Vol 8 (5) ◽  
pp. 8707-8716 ◽  
Author(s):  
Shiguo Liu ◽  
Xueqin Wang ◽  
Hui Zou ◽  
Yinlin Ge ◽  
Fang Wang ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Chinese Population ◽  
Identification And Characterization

scholarly journals Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism

2014 ◽  
Vol 58 (8) ◽  
pp. 828-832 ◽  
Author(s):  
Chunyun Fu ◽  
Shaoke Chen ◽  
Rongyu Chen ◽  
Xin Fan ◽  
Jingsi Luo ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Mutation Screening ◽  
Gene Mutations ◽  
Sodium Iodide Symporter ◽  
Blood Leukocytes ◽  
Autonomous Region ◽  
Guangxi Zhuang Autonomous Region ◽  
Missense Variation ◽  
Nis Gene

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.

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