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Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene Cover

Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene

Balkan Journal of Medical Genetics
Volume 23 (2020): Issue 2 (November 2020)
By: A Malej,  M Avbelj Stefanija,  N Bratanič and  K Trebušak Podkrajšek  
Open Access
|Mar 2021

Figures & Tables

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.[=];[=].
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.[=];[=].

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).
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).

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_

PatientBornDiedAge at OnsetAntibodies (IU/mL)Treatment
HypCVCAntiTGAntiTPOAntithyroid DrugsThyroidectomy131-Iodine
I-118961963NKNKNKNKNK
II-119232008426055373 years[+]
II-419302004454648549 years[+]
II-5193219985150negativenegative7 years[+]
II-9194019914040NKNK2 years[+]
III-2195240–negativenegative6 years[+]
III-5195420072426negativenegative3 years[+]
III-6195823–negativenegative4 years[+][+]
III-9197317–negativenegative1 year[+]
IV-2198410–80>100014 years
IV-319886–negativenegative14 years[+]
DOI: https://doi.org/10.2478/bjmg-2020-0022 | Journal eISSN: 2199-5761
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Language: English
Page range: 87 - 92
Published on: Mar 23, 2021
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Activating variant,
Familial non-autoimmune hyperthyroidism (FNAH),
thyrotropin receptor,
gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2021 A Malej, M Avbelj Stefanija, N Bratanič, K Trebušak Podkrajšek, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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