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. 2021 Mar 8;59(3):305–312. doi: 10.1136/jmedgenet-2020-107427

Figure 4.

Figure 4

Photomicrograph of a mandibular giant cell lesion and screenshots of chromatograms of individual 2. (A) Subject 2: histopathological features of the mandibular tumour displaying numerous giant cells in a fibroblastic and haemorrhagic stroma (standard H&E staining, magnification bar: 50 μm). (B) Subject 2: screenshots of Sanger sequencing chromatograms showing the TRPV4 c.1856T>C (p.Leu619Pro) in blood DNA, which was detected in the proband and was absent in both parents. The proportion of the variant allele and wild-type allele peaks is consistent with a variant allele frequency of 21.6% detected in the whole-exome sequencing. (C) Pore view of homotetrameric TRPV4 transmembrane domain in the presence of barium (PDB ID: 6C8G) (D). Channel view of pore domain S5–S6 of TRPV4 showing two opposing subunits for clarity, with Leu619 and (E) Leu619Pro shown in stick representation. TRPV4, transient receptor potential vanilloid 4 cation channel.