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Activating mutations of the G-protein subunit α11 interdomain interface cause autosomal dominant hypocalcemia type 2

Journal of Clinical Endocrinology & Metabolism Mar 10, 2020

Gorvin CM, Stokes VJ, Boon H, et al. - Considering that autosomal dominant hypocalcemia types 1 and 2 (ADH1 and ADH2) are caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and its signaling partner, the G-protein subunit α11 (Gα11), respectively, researchers discovered two additional ADH families and examined them for CaSR and Gα11 mutations. According to results, CaSR variants were not found, but 2 novel heterozygous germline Gα11 variants, p.Gly66Ser and p.Arg149His, have been identified. Such outcomes show that the Gα11 interdomain interface represents a hotspot for germline gain-of-function mutations causing ADH2.
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