Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene
Journal Title: Turkish Journal of Endocrinology and Metabolism - Year 2009, Vol 13, Issue 3
Abstract
Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced sensitivity to thyroid hormone (TH), usually due to mutations in the thyroid hormone receptor (TR) b‚ gene. We studied a Turkish family whose proband, a 19-year-old male, presented with diffuse goiter, nervousness, and palpitation. Thyroid function tests revealed elevated levels of TH and nonsuppressed thyrotropin (TSH). Gene sequencing revealed a mutation in one allele of the TRb gene in the proband, his two brothers, and father. It involved the substitution of the normal cytosine 1642 with a thymidine, resulting in the replacement of the normal proline 453 with a serine (P453S) in the T3-binding domain of the TRb which is known to have one quarter to one third the T3-binding affinity of the normal TRb Genetic study of the family suggests that the mutation may have occurred de-novo in the father of the proband. Turk Jem 2009; 13: 43-6
Authors and Affiliations
Banu Köroğlu, Sunee Mamanasiry, Adem Küçük, Mehmet Tamer, Ramazan Yılmaz, Samuel Refetoff
Keywords
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