Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18246032 |
Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F). |
| 18087240 |
The c.425T>G change is predicted to result in the missense substitution of the leucine at codon 142 for an arginine (p.L142R), and supports a causative role for FRMD7 mutations in the pathogenesis of X-linked idiopathic infantile nystagmus. |
| 17962394 |
A novel p.R229G missense mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females. |
| 17893669 |
Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). |
| 17846367 |
We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations |
| 17768376 |
These results provide additional evidence for mutations in FRMD7 as a common cause of X-linked congenital motor nystagmus and expand its mutation spectrum. |
| 17013395 |
Restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. |
| 17397053 |
report of five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus |
| 16240070 |
X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form. |
