Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

Figure 2

(a) Sequencing analysis of exon 11 in patient II b. The figure shows that the missense mutation at codon 318 results in a Tyr to His substitution. The same mutation was found in the proband’s mother, who is affected by PPHP. (b) Gsa conservation analysis with CLC free, the result shows that Gsa codon 318 is in the highly conserved region. (c) The tertiary structure of Gsa, α4-β6 loop was shown in red, and Tyr-318 residue was the green point indicated by green arrow. (d) A cAMP assay was used to assess the Gsa function of GNAS WT and GNAS MT, with or without stimulation with PTH 1–34 (10⁻⁸ M) in OK cells. *𝑃<0.05; **𝑃<0.01; ***𝑃<0.001 (compared with control). ^###𝑃<0.001 (compared with GNAS WT).

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