Table 7.
Osseous involvement in patients with GGCX mutations. This table gives an overview of all patients in the analyzed cohort with osseous manifestations features. For each patient, the GGCX mutations on both alleles and the affected protein domain are stated (protein annotation). Further, a brief overview of the bone features is shown.
| Id | Allele 1 | Allele 2 | FD | CP | RBM | Other | ||
|---|---|---|---|---|---|---|---|---|
| Annotation | Protein Domain | Annotation | Protein Domain | |||||
| 5 | p.(W157R) | HTTM (TMD3) | p.(T591K) | RmlC-like | x | * | ||
| 6 | p.(W157R) | HTTM (TMD3) | p.(T591K) | RmlC-like | † | |||
| 7 | p.(D153G) | HTTM (TMD3) | p.(M174R) | HTTM | ‡ | |||
| 13 | p.(G72_L124del) | HTTM (TMD1 and -2) | p.(R485P) | near PP-BS | x | |||
| 22 | p.(W315X) | HTTM | p.(R485P) | near PP-BS | x | x | x | |
| 23 | p.(R204C) | HTTM | p.(R204C) | HTTM | x | x | ||
| 24 | p.(R204C) | HTTM | p.(R204C) | HTTM | x | |||
| 27 | p.(W157R) | HTTM (TMD3) | c.2085-5T>C (splice) | Gla domain | x | x | x | |
| 28 | p.(S284P) | HTTM | p.(W315X) | HTTM | x | |||
| 29 | p.(G125R) | HTTM (TMD2) | p.(D534V) | near PP-BS+RmlC-like | x | x | ||
| 47 | p.(D15_F71del) | N-terminus + HTTM (TMD1) | p.(D15_F71)del | N-terminus + HTTM (TMD1) | § | |||
CP: chondrodysplasia punctata; FD: facial dysmorphia; Gla: gamma-carboxyglutamate; HTTM: horizontally transferred transmembrane domain; Id: identification number; PP-BS: propeptide binding site; RBM: reduced bone mass; RmlC: deoxythymidine-6-deoxy-d-xylo-4-hexulose 3,5 epimerase (EC5.1.3.13); RmlC-like: RmlC-like jelly roll fold; splice: splice site mutation; RmlC-like: RmlC-like jelly roll fold; TMD: transmembrane domain; * stunted growth, † skeletal abnormalities, ‡ telebrachydactyly, § clinodactyly, nephrocalcinosis and calcification of the trachea and bronchi.