title: [Molecular genetics of congenital isolated thyrotropin deficiency].
abstract: In 1971, the first case of congenital isolated thyrotropin (TSH) deficiency was reported by Miyai et al. Subsequently, the same group reported that the disease was caused by a missense mutation in the CAGYC region of the TSH-beta gene (substitution from G to A in exon 2 which altered the Gly29 [GGA] to Arg29 [AGA]). At present the same mutation was reported in 6 patients in 5 Japanese families. Dacou-Voutetakis reported 3 patients with a nonsense mutation in exon 2 (Glu12 [GAA] to Ter [TAA]) and Rajan reported 3 patients with bioinactive TSH caused by a frameshift mutation in exon 3 (Cys105 [TGT] to Val105 [*GTA] and Val114 [GTA] to Ter [TAG]). Significance of C-X-G-X-C motif for biosynthesis of glycoprotein hormones and mass screening for early diagnosis of this disease were discussed.
authors.affiliation: Koshien University, College of Nutrition.
authors.forename: K
authors.initials: K
authors.lastname: Miyai
mesh_terms: D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000517:prevention & control; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D013972:Thyrotropin / Q000172:deficiency* / Q000235:genetics*
chemical_list: D013972:Thyrotropin