title: A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
abstract: Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of the thyroid stimulating hormone receptor gene. This is the most common activating mutation in the thyroid stimulating hormone receptor gene with total of 13 patients harboring the mutation in four families. The similarities and differences among patients with the mutation in codon 431 are discussed. Furthermore all previously reported activating mutations in the thyroid stimulating hormone receptor gene are reviewed.
authors: Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.
authors: Cæcilie C
authors: CC
authors: Larsen
authors: Department of Pediatric, Texas Children's Hospital, Houston, TX 77030 USA.
authors: Lefkothea P
authors: LP
authors: Karaviti
authors: Department of Radiology, Texas Children's Hospital, Houston, TX 77030 USA.
authors: Victor
authors: V
authors: Seghers
authors: Department of Medicine, University of Miami, Miami, FL 33101 USA.
authors: Roy E
authors: RE
authors: Weiss
authors: Department of Medicine, The University of Chicago, Chicago, IL 60637 USA ; Department of Pediatrics, The University of Chicago, Chicago, IL 60637 USA ; Committee on Genetics, The University of Chicago, Chicago, IL 60637 USA.
authors: Samuel
authors: S
authors: Refetoff
authors: Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.
authors: Alexandra M
authors: AM
authors: Dumitrescu
keywords: Activating; Hyperthyroidism; Nonautoimmune; Pediatric; Radioiodine; Receptor mutation; Thyrotropin