A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone.
نویسندگان
چکیده
Jumpei Ito1, 2, Satoshi Narumi2, Kazumichi Nishizawa1, 2, Tsutomu Kamimaki2, 3, Naoaki Hori2, 4, and Tomonobu Hasegawa2 1 Department of Pediatrics, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan 2 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3 Department of Pediatrics, Shizuoka City Shimizu Hospital, Shizuoka, Japan 4 Department of Pediatrics, Ota Memorial Hospital, Gunma, Japan
منابع مشابه
Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.
Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation. The index patient had been misdiagnosed as...
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BACKGROUND Resistance to thyroid hormone beta (RTHβ) is a rare and usually dominantly inherited syndrome caused by mutations of the thyroid hormone receptor β gene (THRB). In severe cases, it is rarely challenging to control manifestations using daily therapeutic replacement of thyroid hormone. CASE PRESENTATION The present case study concerns an 8-year-old Japanese girl with a severe phenoty...
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Inactivating mutations of THRB, which encodes the thyroid hormone receptor β (TRβ), cause resistance to thyroid hormone (RTH; OMIM 190160). To date, more than 100 THRB mutations have been reported among RTH patients. Most mutations substitute a single amino-acid residue in the ligand-binding domain. In this report, we describe clinical and molecular findings of three families with RTH. Three fa...
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ورودعنوان ژورنال:
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
دوره 25 1 شماره
صفحات -
تاریخ انتشار 2016