Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

Figure 1 Facial features of the patient. At age 3 mo, he had a long palpebral fissure (A), arched and broad eyebrows with the lateral third displaying sparseness (B), long eyelashes (A), but short columella with depressed nasal tip (C), wide nasal bridge, and high-arched palate as well as a high forehead and hairline (D).

Figure 2 Sanger sequencing of the patient and his parent’s DNA samples. A: The reference corresponding DNA sequences of KDM6A gene from the NCBI GenBank; B: DNA sequence of the DNA sample from the patient. The DNA sequencing data demonstrated AG deletion (chr23:44911001_44911002delAG, c.702_703delAG, p. N236Sfs*26); C, D: DNA sequence of the samples from his parents. The data showed no KDM6A gene mutation.