Article
Four families with loss of function mutations of the thyrotropin receptor.
The Journal of clinical endocrinology and metabolism - 1 Dec 1996
de Roux N, Misrahi M, Brauner R, Houang M, Carel J C, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc J E, Milgrom E
Abstract excerpt
We observed four families with loss of function mutations of the TSH receptor gene. One patient had a homozygous Pro162 Ala substitution. The three other were compound heterozygotes: 1) Gln324-->Stop and Asp410 Asn2), Cys41 Ser and Phe525 Leu, 3) Cys390 Trp and Trp546-->Stop. In all patients, the plasma TSH concentration was increased, whereas T3 and T4 concentrations were normal. The TSH levels were normal in...
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