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Fujiwara
A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect.
Fujiwara H, Tatsumi K, Tanaka S, Kimura M, Nose O, Amino N.
Thyroid. 2000 Jun;10(6):471-4.
[abstract only]
"Iodide transport defect results from the malfunction of iodide transporter (sodium iodide symporter [NIS]), and is characterized by low uptake of iodide into thyroid cells. Genetic analysis revealed that a T354P missense mutation causes iodide transport defect in the homozygous state and is a frequent mutation in the Japanese population. We recently reported three siblings with iodide transport defect harboring the T354P mutation in the heterozygous state. Here we report a novel V59E missense mutation associated with these siblings. The mutant protein showed low iodide transport activity."
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, Kodama S, Amino N.
J Clin Endocrinol Metab. 1998 Aug;83(8):2940-3.
"Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P mutation in the sodium/iodide symporter (NIS) gene caused ITD. To clarify the prevalence of this mutation, artificial substitution introducing PCR followed by restriction enzyme analysis was developed as a rapid screening method to detect the T354P mutation. Three apparently unrelated families with ITD, one patient with low thyroidal 99mTc pertechnetate (99mTcO4-) uptake and 52 healthy controls (104 alleles) were analyzed for this mutation. All families with ITD harbored the mutation, suggesting that T354P is a recurrent mutation and a major cause of ITD. This was not a widespread mutation, because it was not detected in the 52 unrelated normal controls. Because two cases with homozygous T354P mutation developed multinodular goiters within their second decade of life though they had been maintained in euthyroid state, homozygous T354P mutation alone and/or low intrathyroidal iodide and high serum TSH level in early life might account for tumorigenesis. The patient with low thyroidal 99mTcO4- uptake did not harbor the T354P mutation. Because familial hypocalciuric hypercalcemia was also present in this family, a possibility of the combined abnormality of TSH receptor and calcium functions, which includes an abnormality around the G protein, may be examined further."
Congenital hypothyroidism caused by a mutation in the Na+/l-symporter.
Fujiwara H.
Nat Genet. 1997 Sep;17(1):122.
[citation only]
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N.
Nat Genet. 1997 Jun;16(2):124-5.
[citation only]