Figure 3: The results of whole-exome-sequencing. (A) The mutation of
gain (EXON:2-6 duplication) from his father. The variant was predicted
to disrupt the reading frame and leaded to transcription factor
degradation. (B) The mutation of c.1218 (exon11) C>A from
his mother. The missense variant was suspected as a pathogenic gene
mutation.