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A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism

Journal of Human Genetics volume 53, pages 475478 (2008) | Download Citation


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.

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  1. Department of Biochemistry, The Chinese University of Hong Kong, Shatin, NT, Hong Kong

    • Zheng Liu
    •  & Christopher H K Cheng
  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

    • Zheng Liu
    • , Yuanming Sun
    •  & Feiyue Fan
  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

    • Zheng Liu
    • , Qingming Dong
    •  & Mingliang He


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Correspondence to Feiyue Fan.

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