Table 3 Genetic characteristics of the affected individuals with bi-allelic crumbs cell polarity complex component 1 (CRB1) mutations
Genetic characteristics | Participants (N = 439) |
|---|---|
N (%) | |
Exons combinations (n = 438) | |
6 and 6 | 69 (16%) |
7 and 7 | 45 (10%) |
9 and 9 | 34 (8%) |
8 and 8 | 23 (5%) |
7 and 9 | 21 (5%) |
6 and 7 | 19 (4%) |
6 and 9 | 15 (3%) |
Domains combinations (n = 430) | |
laminin G-like 2 and laminin G-like 2 | 51 (12%) |
Laminin G-like 1 and Laminin G-like 1 | 44 (10%) |
EGF-like 14 and EGF-like 14 | 24 (6%) |
Laminin G-like 3 and Laminin G-like 3 | 21 (5%) |
Laminin G-like 2 and EGF-like 14 | 15 (3%) |
EGF-like 9 and EGF-like 9 | 13 (3%) |
EGF-like 17 and EGF-like 17 | 9 (2%) |
Genotype (n = 439) | |
Homozygous p.(Cys948Tyr) | 15 (3%) |
Homozygous p.(Gly1103Arg) | 13 (3%) |
Homozygous p.(Gly614Val) | 8 (2%) |
p.(Cys948Tyr) and c.2978 + 5G > A | 7 (2%) |
p.(Lys801Ter) and p.(Cys896Ter) | 7 (2%) |
Homozygous p.(Cys383Tyr) | 6 (1%) |
p.(Leu1074Ser) and c.2677–2 A > C, p.= | 6 (1%) |
Mutations types (n = 439) | |
Missense and Missense | 222 (51%) |
Missense and Indel | 53 (12%) |
Missense and Nonsense | 49 (11%) |
Nonsense and Nonsense | 36 (8%) |
Indel and Indel | 28 (6%) |
Missense and Splice site | 25 (6%) |
Splice site and Splice site | 11 (2%) |