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. 2018 Mar 9;14(4):381–389. doi: 10.7150/ijbs.23517

Figure 3.

Figure 3

Genetic analysis of KS patients and overview of the identified KMT2D and KDM6A mutations relative to a schematic representation of their genes and protein structures. (A) Chromatograms of the patients, parents, and controls. The mutations are indicated above the chromatograms. (B) The mutation, c.855_856delCT is located in exon 7, c.3699delG in exon 11, c.5317C>T in exon 22, c.6115delT in exon 29, c.11824C>T in exon 39, and c.16294C>T in exon 51 of the KMT2D gene. (C) The variant p.286X is located in PHD finger, p.S2039QfsX8 in HMG box, p.Q3942X in polyglutamine tract, and p.R5432W in SET domain of the KMT2D protein. (D) The mutation, c.327_333delTCCAAA, is localized in exon 3 of the KDM6A gene. (E) The p.Y109X is located in tetratricopeptide repeat of the KDM6A protein.