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Page 1
Nystagmus in childhood.
Papageorgiou E, McLean RJ, Gottlob I. Papageorgiou E, et al. Pediatr Neonatol. 2014 Oct;55(5):341-51. doi: 10.1016/j.pedneo.2014.02.007. Epub 2014 Jul 31. Pediatr Neonatol. 2014. PMID: 25086850 Free article. Review.
Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. ...Recent advances in the field of genetics have identified the FRMD7 gene as the major cau …
Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired …
Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons.
Pu J, Dai S, Gao T, Hu J, Fang Y, Zheng R, Jin C, Zhang B. Pu J, et al. Brain Behav. 2019 Dec;9(12):e01473. doi: 10.1002/brb3.1473. Epub 2019 Nov 19. Brain Behav. 2019. PMID: 31743612 Free PMC article.
The complexity in the human neuronal network might suggest a unique vulnerability of human neurons to FRMD7 mutations. METHODS: Herein, we successfully established human neuronal cell models with FRMD7 mutations, from fibroblasts-reprogrammed neurons (iNs). ...RESUL …
The complexity in the human neuronal network might suggest a unique vulnerability of human neurons to FRMD7 mutations. METHODS: Herei …
FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus.
Arshad MW, Shabbir MI, Asif S, Shahzad M, Leydier L, Rai SK. Arshad MW, et al. Genes (Basel). 2023 Jan 29;14(2):346. doi: 10.3390/genes14020346. Genes (Basel). 2023. PMID: 36833273 Free PMC article.
Unlike other forms of nystagmus, CIN is widely associated with mutations in the FRMD7 gene. This study involves the molecular genetic analysis of a consanguineous Pakistani family with individuals suffering from CIN to undermine any potential pathogenic mutations. . …
Unlike other forms of nystagmus, CIN is widely associated with mutations in the FRMD7 gene. This study involves the molecular …
Correlations of FRMD7 gene mutations with ocular oscillations.
Huang L, Zhou Y, Chen W, Lin P, Xie Y, He K, Zhang S, Wu Y, Li N. Huang L, et al. Sci Rep. 2022 Jun 15;12(1):9914. doi: 10.1038/s41598-022-14144-7. Sci Rep. 2022. PMID: 35705619 Free PMC article.
Mutations in the FERM domain containing 7 (FRMD7) gene have been proven to be responsible for infantile nystagmus (IN). The purpose of this study is to investigate FRMD7 gene mutations in patients with IN, and to evaluate the nystagmus intensity among …
Mutations in the FERM domain containing 7 (FRMD7) gene have been proven to be responsible for infantile nystagmus (IN). The pu …
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
PURPOSE: Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile nystagmus. ...CONCLUSIONS: Overall, genetic defects of FRMD7 were found in 11/49 (22.4%) probands, including the first reported ge …
PURPOSE: Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile n …
Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Lee J, Jeong H, Won D, Shin S, Lee ST, Choi JR, Byeon SH, Kuht HJ, Thomas MG, Han J. Lee J, et al. Transl Vis Sci Technol. 2022 Jun 1;11(6):25. doi: 10.1167/tvst.11.6.25. Transl Vis Sci Technol. 2022. PMID: 35762937 Free PMC article.
PURPOSE: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN). METHODS: Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically un …
PURPOSE: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN). METHODS: Gen …
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD. Choi JH, et al. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. Invest Ophthalmol Vis Sci. 2018. PMID: 30025138
No significant differences were observed between FRMD7 and non-FRMD7 groups in terms of the nystagmus waveform, presence of periodic alternating nystagmus, and mean foveation time. CONCLUSIONS: We identified five FRMD7 mutations in 35% of our in …
No significant differences were observed between FRMD7 and non-FRMD7 groups in terms of the nystagmus waveform, presenc …
Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.
Zhang X, Ge X, Yu Y, Zhang Y, Wu Y, Luan Y, Sun J, Qu J, Jin ZB, Gu F. Zhang X, et al. Sci Rep. 2014 Jan 17;4:3745. doi: 10.1038/srep03745. Sci Rep. 2014. PMID: 24434814 Free PMC article.
Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRM …
Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuit …
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.
Gupta S, Pathak E, Chaudhry VN, Chaudhry P, Mishra R, Chandra A, Mukherjee A, Mutsuddi M. Gupta S, et al. Neurosci Lett. 2015 Jun 15;597:170-5. doi: 10.1016/j.neulet.2015.04.037. Epub 2015 Apr 24. Neurosci Lett. 2015. PMID: 25916882
Idiopathic congenital nystagmus (ICN) is the most common form of oculomotor disorder characterized by involuntary bilateral ocular oscillations. ...In the current study, a three generation North Indian family affected with X-linked idiopathic congenital nystagmus (X …
Idiopathic congenital nystagmus (ICN) is the most common form of oculomotor disorder characterized by involuntary bilateral ocular os …
Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.
Zhao X, Li X, Yuan J, Wang X, Meng Q, Zhang X. Zhao X, et al. Genomics. 2025 Nov;117(6):111138. doi: 10.1016/j.ygeno.2025.111138. Epub 2025 Oct 21. Genomics. 2025. PMID: 41130545 Free article.
Idiopathic congenital nystagmus (ICN) is characterized by involuntary horizontal eye oscillations and is frequently associated with X-linked FRMD7 mutations. ...RT-qPCR and western blotting revealed unchanged FRMD7 mRNA levels but a significantly upregulated …
Idiopathic congenital nystagmus (ICN) is characterized by involuntary horizontal eye oscillations and is frequently associated with X …
65 results