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A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism |
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| Authors: | Zheng Liu Yuanming Sun Qingming Dong Mingliang He Christopher H. K. Cheng Feiyue Fan |
| Affiliation: | (1) Department of Biochemistry, The Chinese University of Hong Kong, Shatin, NT, Hong Kong;(2) Tianjin Key Laboratory of Molecular Nuclear Medicine, Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, 300192 Tian Jin, China;(3) Stanley Ho Centre for Emerging Infectious Diseases and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, NT, Hong Kong |
| Abstract: | Familial non-autoimmune hyperthyroidism is a rare autosomal dominant genetic disease resulting from activating mutations in the thyroid-stimulating hormone receptor (TSHR) gene. In this work a Chinese family with autosomal dominant non-autoimmune hyperthyroidism across four generations was collected. The strongest evidence for linkage in this study occurred on chromosome 14q24.2–31.3. By mutation scan of the TSHR gene located within the region of interest, a heterozygote substitution (A > T) at position 2071 of the TSHR was found, changing isoleucine 691 to phenylalanine. Our study identified the first germline mutation in the intracellular C-terminal domain of TSHR. Zheng Liu and Yuanming Sun contribute to this work equally. |
| Keywords: | TSH receptor Autosomal dominant non-autoimmune hyperthyroidism (ADNAH) Linkage analysis |
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