Fig. 3

Identification of POU3F4 variants by Sanger sequencing and nanopore long-read single-molecule sequencing. a Schematic illustration of the exon region of POU3F4 with mutations labeled. Four nonsense mutations, three missense variants, two frameshift mutations and one indel mutation were identified. De novo variants are indicated with “#”. b Schematic illustration of the upstream region of POU3F4 with DELs indicated. These DELs identified in this study were located between SH3BGRL and POU3F4 genes on the X chromosome. Four DELs varied from 80 to 486 kb. De novo deletion is indicated with “#”. c The breakpoint junction sequence of families with DELs upstream of POU3F4. The red arrows indicate the breakpoints. An INS of 18 bp was also identified in Family-04