Table 1 Results of gene mutation testing for probands
Gene | Transcript | The location of the genome | Zygotic type | Genetic mode | Diseases related to gene mutations |
|---|---|---|---|---|---|
OCA2 | NM_000275 exon14 | chr15:28228553 c.1441G > A p.A481T | Heterozygote | AR | Skin or hair or eye pigmentation variant type I (MIM: 227,220); Oculocutaneous albinism type II (MIM:203,200) |
OCA2 | NM_001300984 exon22 | chr15:28090200 c.2267-2 A > C | Heterozygote | AR | |
OCA2 | NM_000275 exon13 | chr15:28230316 c.1258G > A p.G420R | Heterozygote | AR |