Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
作者： N C Dracopoli , I A Kourides , M Drakopoulou , D M Feltquate , C Dacou-Voutetakis
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摘要: Hereditary hypothyroidism caused by thyroid-stimulating hormone (TSH) deficiency is a rare autosomal recessive disease. Affected individuals show symptoms of severe mental and growth retardation that can be prevented early administration exogenous thyroid hormone. In this paper, we describe two related Greek families with three children affected congenital TSH-deficient hypothyroidism. Sequence analysis the TSH beta-subunit gene (TSHB) showed mutation responsible for in these nonsense exon 2. This G-to-T transversion at nucleotide 94 destroys only TaqI site TSHB-coding region gives rise to novel 8.5-kb fragment. Restriction are homozygous allele four parents unaffected heterozygous. truncated peptide which includes first 11 118 amino acids mature TSHB peptide.
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