A Homozygous Missense Mutation of the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect

1997 ◽  
Vol 82 (12) ◽  
pp. 3966-3971 ◽  
Author(s):  
A. Matsuda
Keyword(s):  
Missense Mutation ◽  
Sodium Iodide ◽  
Sodium Iodide Symporter ◽  
Homozygous Missense Mutation ◽  
Iodide Transport ◽  
Transport Defect

A Novel V59E Missense Mutation in the Sodium Iodide Symporter Gene in a Family with Iodide Transport Defect

Thyroid ◽  
2000 ◽  
Vol 10 (6) ◽  
pp. 471-474 ◽  
Author(s):  
Hirokazu Fujiwara ◽  
Ke-ita Tatsumi ◽  
Susumu Tanaka ◽  
Masahiro Kimura ◽  
Osamu Nose ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sodium Iodide ◽  
Sodium Iodide Symporter ◽  
Iodide Transport ◽  
Transport Defect

scholarly journals A Homozygous Missense Mutation of the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect1

1997 ◽  
Vol 82 (12) ◽  
pp. 3966-3971
Author(s):  
Akira Matsuda ◽  
Shinji Kosugi
Keyword(s):  
Missense Mutation ◽  
Ribonucleic Acid ◽  
Sodium Iodide ◽  
Northern Analysis ◽  
Sodium Iodide Symporter ◽  
Iodide Uptake ◽  
Complementary Dna ◽  
Homozygous Missense Mutation ◽  
Iodide Transport ◽  
Nis Gene

Iodide transport defect is a disorder characterized by an inability of the thyroid to maintain an iodide concentration difference between the plasma and the thyroid. The recent cloning of the sodium/iodide symporter (NIS) gene enabled us to characterize the NIS gene in this disorder. We identified a homozygous missense mutation of A→C at nucleotide +1060 in NIS complementary DNA in a male patient who was born from consanguineous marriage, had a huge goiter, and lacked the ability to accumulate iodide but was essentially euthyroid. The mutation results in an amino acid replacement of Thr354→Pro in the middle of the ninth transmembrane domain. COS-7 cells transfected with the mutant NIS complementary DNA showed markedly decreased iodide uptake, confirming that this mutation was the direct cause of the disorder in the patient. Northern analysis of thyroid ribonucleic acid revealed that NIS messenger ribonucleic acid level was markedly increased (>100-fold) compared with that in the normal thyroid, suggesting possible compensation by overexpression.

scholarly journals Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Wakako Jo ◽  
Katsura Ishizu ◽  
Kenji Fujieda ◽  
Toshihiro Tajima
Keyword(s):  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Present Report ◽  
Sodium Iodide Symporter ◽  
Loss Of Function ◽  
Laboratory Findings ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pax8 Gene

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS) gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.

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