Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene
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 palpitati...
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Turkiye Klinikleri
2009-12-01
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doaj-5cb8153ad3584b4cb510570bc456c82c2020-11-25T01:51:06ZengTurkiye KlinikleriTurkish Journal of Endocrinology and Metabolism1301-21932009-12-011334346Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta GeneBanu Kale KöroğluSunee MamanasiryAdem KüçükMehmet Numan TamerRamazan YılmazSamuel RefetoffResistance 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: 43-6http://www.turkjem.org/eng/yazilar.asp?yaziid=608&sayiid=Resistance to thyroid hormonethyroid hormone receptor betamutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Banu Kale Köroğlu Sunee Mamanasiry Adem Küçük Mehmet Numan Tamer Ramazan Yılmaz Samuel Refetoff |
spellingShingle |
Banu Kale Köroğlu Sunee Mamanasiry Adem Küçük Mehmet Numan Tamer Ramazan Yılmaz Samuel Refetoff Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene Turkish Journal of Endocrinology and Metabolism Resistance to thyroid hormone thyroid hormone receptor beta mutation |
author_facet |
Banu Kale Köroğlu Sunee Mamanasiry Adem Küçük Mehmet Numan Tamer Ramazan Yılmaz Samuel Refetoff |
author_sort |
Banu Kale Köroğlu |
title |
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene |
title_short |
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene |
title_full |
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene |
title_fullStr |
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene |
title_full_unstemmed |
Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene |
title_sort |
resistance to thyroid hormone: probable de novo mutation (p453s) in the receptor beta gene |
publisher |
Turkiye Klinikleri |
series |
Turkish Journal of Endocrinology and Metabolism |
issn |
1301-2193 |
publishDate |
2009-12-01 |
description |
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 |
topic |
Resistance to thyroid hormone thyroid hormone receptor beta mutation |
url |
http://www.turkjem.org/eng/yazilar.asp?yaziid=608&sayiid= |
work_keys_str_mv |
AT banukalekoroglu resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene AT suneemamanasiry resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene AT ademkucuk resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene AT mehmetnumantamer resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene AT ramazanyılmaz resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene AT samuelrefetoff resistancetothyroidhormoneprobabledenovomutationp453sinthereceptorbetagene |
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