Table 6.
Eye phenotype in patients with GGCX mutations. This table gives an overview of all patients in the analyzed cohort with ophthalmological manifestations. For each patient, the GGCX mutations on both alleles and the affected protein domain are stated (protein annotation). Further, a brief overview of the eye symptoms is shown.
| Id | Allele 1 | Allele 2 | AS | Pd’O | PR | ||
|---|---|---|---|---|---|---|---|
| Annotation | Protein Domain | Annotation | Protein Domain | ||||
| 8 | p.(V255M) | HTTM | p.(S300F) | HTTM (TMD4) | |||
| 10 | p.(R83W) | HTTM | p.(Q374X) | TMD5 | x | ||
| 11 | p.(R83W) | HTTM | p.(Q374X) | TMD5 | x | x | |
| 16 | p.(W493S) | near PP-BS | p.(W493S) | near PP-BS | x | ||
| 17 | p.(R476C) | near PP-BS | - | - | x | ||
| 18 | p.(R476H) | near PP-BS | - | - | x | x | |
| 31 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 32 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 33 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 34 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 35 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 36 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 37 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 38 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 39 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 40 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 41 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 42 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
| 43 | p.(F74_G125del) | HTTM (TMD1 and -2) | p.(F74_G125del) | HTTM (TMD1 and -2) | x | ||
AS: angioid streaks; HTTM: horizontally transferred transmembrane domain; Id: identification number; Pd’O: peau d’orange; PP-BS: propeptide binding site; PR: pigmentary retinopathy; TMD: transmembrane domain.