A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

Cæcilie C Larsen, Lefkothea P Karaviti, Victor Seghers, Roy E Weiss, Samuel Refetoff, Alexandra M Dumitrescu

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of the thyroid stimulating hormone receptor gene. This is the most common activating mutation in the thyroid stimulating hormone receptor gene with total of 13 patients harboring the mutation in four families. The similarities and differences among patients with the mutation in codon 431 are discussed. Furthermore all previously reported activating mutations in the thyroid stimulating hormone receptor gene are reviewed.

OriginalsprogEngelsk
Artikelnummer23
TidsskriftInternational Journal of Pediatric Endocrinology
Vol/bind2014
Udgave nummer1
Antal sider6
ISSN1687-9848
DOI
StatusUdgivet - 2014
Udgivet eksterntJa

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