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- Title
Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
- Authors
França, Monica M.; Levine, Robert L.; Pappa, Theodora; Ilaka-Chibuluzo, Sandra; Rothberger, Gary D.; Dumitrescu, Alexandra M.; Refetoff, Samuel
- Abstract
Nonautoimmune hyperthyroidism caused by activating mutations in the GNAS gene is a rare condition. In this study, we report a five-year-old girl diagnosed with nonautoimmune hyperthyroidism and tall stature harboring a somatic mosaic gain-of-function mutation in the GNAS gene (NM_080425.3: c.2530C>T;p.Arg844Cys previously reported as NM_000516.5:c.601C>T;p.Arg201Cys) and referred to thereafter as R201C, in three of four quadrants of the thyroid gland. Provision of a molecular diagnosis may avoid unnecessary complete ablation of the thyroid gland.
- Subjects
THYROID gland; HYPERTHYROIDISM; GENETIC mutation; GAIN-of-function mutations; MOLECULAR diagnosis
- Publication
Thyroid, 2020, Vol 30, Issue 4, p640
- ISSN
1050-7256
- Publication type
Article
- DOI
10.1089/thy.2019.0471