title: A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
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.
authors.affiliation: 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.|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.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Liu
authors.affiliation: 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.
authors.forename: Yuanming
authors.initials: Y
authors.lastname: Sun
authors.affiliation: 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.
authors.forename: Qingming
authors.initials: Q
authors.lastname: Dong
authors.affiliation: 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.
authors.forename: Mingliang
authors.initials: M
authors.lastname: He
authors.affiliation: Department of Biochemistry, The Chinese University of Hong Kong, Shatin, NT, Hong Kong.
authors.forename: Christopher H K
authors.initials: CHK
authors.lastname: Cheng
authors.affiliation: 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. fangao6@gmail.com.
authors.forename: Feiyue
authors.initials: F
authors.lastname: Fan
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006111:Graves Disease; D006801:Humans; D006980:Hyperthyroidism / Q000235:genetics*; D007424:Intracellular Fluid / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin