Recombinant Human FERM domain-containing protein 7 (FRMD7)

1. A novel mutation in the FRMD7 gene causing idiopathic congenital nystagmus was identified G to T transition (c.886G>T) in exon 9 that resulted in the conservative substitution of a glycine to a cysteine at codon 296. PMID: 30015830
2. These results enriched the gene mutation spectrum of FRMD7. PMID: 28656292
3. infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations PMID: 28623544
4. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID: 27036142
5. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus PMID: 26268155
6. this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus. PMID: 24169426
7. we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment. PMID: 24434814
8. a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family PMID: 25916882
9. We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 in the molecular pathogenesis of IIN in 49 unrelated Belgian probands. PMID: 25678693
10. Abnormal retinal development is associated with FRMD7 mutations. PMID: 24688117
11. A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member. PMID: 24513357
12. FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling. PMID: 23967341
13. Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN. PMID: 23733424
14. a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus. PMID: 23406872
15. the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development. PMID: 23946638
16. A novel missense mutation, c.A917G, was found in family members with congenital nystagmus. PMID: 22490987
17. A novel splicing mutation, (c.163-1 G>T), was detected in the region preceding exon 3 of FRMD7 in a Chinese family patients with X-linked congenital nystagmus. PMID: 22262942
18. A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain. PMID: 22128244
19. A previously unreported 4 base-pair deletion in the FRMD7 gene (c.1486-1489 del. TTTT) that causes X-linked idiopathic congenital nystagmus has been identified in a Chinese family. PMID: 22065930
20. Clinicians can use the OKN drum to assess obligate female carriers in a family suspected of having X-linked nystagmus. PMID: 21746984
21. identified a novel mutation, c. 623A>G (p. H208R) in the FRMD7 gene, in a Han Chinese family with infantile nystagmus PMID: 21365021
22. Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to idiopathic infantile nystagmus are described for the first-time PMID: 21220551
23. FRMD7 may play an important role in the brainstem in the early stages of development of the human fetal brain, and provides clues for the mechanism of mutation FRMD7, which may be involved in influencing F-actin dynamics. PMID: 21386928
24. This study showed that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms. PMID: 21303855
25. Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus. PMID: 20450309
26. FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development. PMID: 19892780
27. 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. PMID: 17013395
28. report of five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus PMID: 17397053
29. These results provide additional evidence for mutations in FRMD7 as a common cause of X-linked congenital motor nystagmus and expand its mutation spectrum. PMID: 17768376
30. We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations PMID: 17846367
31. 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). PMID: 17893669
32. 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. PMID: 17962394
33. 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. PMID: 18087240
34. 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). PMID: 18246032
35. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for a family with congenital nystagmus. PMID: 18247295
36. This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with Infantile nystagmus (IN), which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for IN. PMID: 18431453
37. identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six X-linked idiopathic congenital nystagmus pedigrees in China PMID: 19072571
38. X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form. PMID: 16240070

Show More

Hide All

HGNC: 8079

OMIM: 300628

KEGG: hsa:90167

STRING: 9606.ENSP00000298542

UniGene: Hs.170776