一个中国家庭中导致常染色体显性非自身免疫性甲状腺功能亢进症的新型促甲状腺激素受体（TSHR）基因突变（Ile691Phe）。
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
作者信息
Liu Zheng, Sun Yuanming, Dong Qingming, He Mingliang, Cheng Christopher H K, Fan Feiyue
机构信息
Department of Biochemistry, The Chinese University of Hong Kong, Shatin, NT, Hong Kong.
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.
出版信息
J Hum Genet. 2008;53(5):475-478. doi: 10.1007/s10038-008-0257-3. Epub 2008 Feb 29.
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.
家族性非自身免疫性甲状腺功能亢进症是一种罕见的常染色体显性遗传病，由促甲状腺激素受体（TSHR）基因的激活突变引起。在这项研究中，收集了一个连续四代患有常染色体显性非自身免疫性甲状腺功能亢进症的中国家系。本研究中最有力的连锁证据出现在14号染色体q24.2-31.3区域。通过对位于感兴趣区域内的TSHR基因进行突变扫描，发现在TSHR的2071位存在杂合子替代（A>T），导致异亮氨酸691变为苯丙氨酸。我们的研究在TSHR细胞内C末端结构域中鉴定出首个种系突变。
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