Table 2 Summary table of genetic validation of the parents of the proband
Gene | Mutational sites | Father of the proband | Mother of the proband |
|---|---|---|---|
OCA2 | c.1441G > A | Heterozygous mutation | Wild-type |
OCA2 | c.2267-2 A > C | Wild-type | Heterozygous mutation |
OCA2 | c.1258G > A | Heterozygous mutation | Wild-type |