title: A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine D2, Osaka University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Fujiwara
authors.forename: K
authors.initials: K
authors.lastname: Tatsumi
authors.forename: S
authors.initials: S
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: O
authors.initials: O
authors.lastname: Nose
authors.forename: N
authors.initials: N
authors.lastname: Amino
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001693:Biological Transport, Active; D002352:Carrier Proteins / Q000235:genetics*; D002460:Cell Line; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D006801:Humans; D007454:Iodides / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D027981:Symporters; D000099209:Sodium-Iodide Symporters
chemical_list: D002352:Carrier Proteins; D004247:DNA; D007454:Iodides; D008565:Membrane Proteins; D027981:Symporters; D000099209:Sodium-Iodide Symporters