Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report

Figure 1 Pictures of our patient at age 3 years. A-C: Facial characteristics; D: Dental abnormalities; E and F: Hands.

Figure 2 Family pedigree (the proband is marked with black arrow) and Sanger sequencing diagram of the ASXL3 variant (c. 1795G>T, p.E599*). The red arrows indicate the substitution present in the patient (A) but absent from his father (B) and mother (C).

Figure 3 ASXL3 mutations identified in patients with Bainbridge-Ropers syndrome to date (including the novel variant of this study). Novel variant is indicated by underline and italics. The recurrent mutations are indicated in bold. The mutations located in the ASXH domain are in blue rectangular boxes. The mutations located in the ASXM1 domain are in orange rectangular boxes. The mutation located in plant homeodomain finger is in a red rectangular box. PHD: Plant homeodomain.