Figure 1
A family pedigree with clinical manifestations and observed TSHR gene disease-causing variant. The initially tested index patients are indicated by arrows. Variant in heterozygous state is marked as p.[Met453Val];[=], normal state is marked as p.[=];[=].
Table 1
Summary of the clinical characteristics of the family members with hyperthyroidism. Additionally, all patients were tall and slim, they had long, thin fingers, aquiline nose, staring eyes and no exophthalmos.
| Patient | Born | Died | Age at Onset | Antibodies (IU/mL) | Treatment | ||||
|---|---|---|---|---|---|---|---|---|---|
| Hyp | CVC | AntiTG | AntiTPO | Antithyroid Drugs | Thyroidectomy | 131-Iodine | |||
| I-1 | 1896 | 1963 | NK | NK | NK | NK | NK | ||
| II-1 | 1923 | 2008 | 42 | 60 | 55 | 37 | 3 years | [+] | |
| II-4 | 1930 | 2004 | 45 | 46 | 48 | 54 | 9 years | [+] | |
| II-5 | 1932 | 1998 | 51 | 50 | negative | negative | 7 years | [+] | |
| II-9 | 1940 | 1991 | 40 | 40 | NK | NK | 2 years | [+] | |
| III-2 | 1952 | 40 | – | negative | negative | 6 years | [+] | ||
| III-5 | 1954 | 2007 | 24 | 26 | negative | negative | 3 years | [+] | |
| III-6 | 1958 | 23 | – | negative | negative | 4 years | [+] | [+] | |
| III-9 | 1973 | 17 | – | negative | negative | 1 year | [+] | ||
| IV-2 | 1984 | 10 | – | 80 | >1000 | 14 years | |||
| IV-3 | 1988 | 6 | – | negative | negative | 14 years | [+] | ||
Figure 2
Electropherogram of the sequence from exon 10 of the TSHR gene with novel variant NP_000360.2: p.Met453Val (NM_000369.2: c.1357A>G) in the hetero-zygous state (a) and normal sequence (b).