A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family

Gupta, Shashank; Pathak, Ekta; Chaudhry, Vidya Nair; Chaudhry, Prashaant; Mishra, Rajeev; Chandra, Abhishek; Mukherjee, Ashim; Mutsuddi, Mousumi

doi:10.1016/j.neulet.2015.04.037

Cited by 9 publications

(3 citation statements)

References 17 publications

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“…There are currently no effective treatments for ICN and patients experience a significant decrease in their quality of life over time. To date, >40 mutations of FRMD7 have been detected worldwide in people from various ethnic backgrounds (1)(2)(3)(4)(5)(7)(8)(9). A previous study by the current authors identified two novel missense mutations (c.781C>G and c.886G>C) and a truncated mutation (c.1003C>T) of human FRMD7 in three X-linked ICN pedigrees (3).…”

Section: Introductionmentioning

confidence: 75%

Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene

Mao

et al. 2017

Experimental and Therapeutic Medicine

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Abstract. It has been reported that FERM domain containing 7 (FRMD7) may cause X-linked idiopathic congenital nystagmus (ICN). A total of >40 mutations of the FRMD7 gene have been identified, however their pathogenic role remains unclear. In the present study, enhanced green fluorescent protein-tagged wild-type (WT) and mutant (MT) FRMD7 (c. C781>G) were expressed in stably expressing human neuroblastoma SH-SY5Y cells following viral transfection and antibiotic selection. Uniform expression of the FRMD7 fusion proteins was confirmed via fluorescence microscopy and western blotting. The expression profiles of neuron-specific proteins and Rho guanine triphosphatases (GTPases) differed significantly between the wild-type and mutant cell lines. Levels of Mtap2, NF-M, nestin, GAP43 and Rac1 mRNA were significantly increased in MT-FRMD7 cells compared with controls (P<0.01). However, the expression of Rac1 protein did not differ significantly among the two cell lines. Taken together, the results of the current study suggest that MT-FRMD7 influences the expression of neuron-specific genes and Rho GTPases, which may be involved in the pathogenesis of ICN. The FRMD7 stable expression cell line may facilitate future studies investigating the role of this protein in neuronal development.

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Section: Introductionmentioning

confidence: 75%

Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene

Mao

et al. 2017

Experimental and Therapeutic Medicine

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“…Another study by Gupta et al revealed a novel c.556A>G (p.Met186Val) mutation in FRMD7 gene exon causing XLCN. They also studied the protein homology modeling, and inferred that this mutation may lead to change in protein conformation and loss of interactions between different protein domains (Gupta et al, 2015).…”

Section: Congenital Ocular Motility Disordersmentioning

confidence: 99%

Ophthalmic genetics practice and research in India: Vision in 2020

Bansal

Tandon

Saxena

et al. 2020

American J of Med Genetics Pt C

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Ophthalmic genetics is a much needed and growing area in India. Ethnic diversity, with a high degree of consanguinity, has led to a high prevalence of genetic disorders in the country. As the second most populous country in the world, this naturally results in a significant number of affected people overall. Practice involves coherent association between ophthalmologists, genetic counselor and pediatricians. Eye genetics in India in recent times has witnessed advanced research using cutting edge diagnostics, next generation sequencing (NGS) approaches, stem cell therapies, gene therapy and genomic editing. This article will highlight the studies reporting genetic variations in the country, challenges in practice, and the latest advances in ophthalmic genetic research in India.

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“…Ein absoluter Zusammenhang zwischen der Makulahypoplasie und dem Nystagmus konnte nicht festgestellt werden [13]. Auch beim isolierten X-chromosomalen Nystagmus kann eine Abflachung der fovealen Einsenkung auftreten, die unabhängig vom Nystagmus ist [31][32][33]. Aufgrund des nicht nachgewiesenen Zusammenhangs zwischen der Morphologie der Fovea und dem Nystagmus beim Albinismus scheint der Nystagmus seinen Ursprung, ähnlich wie beim X-chromosomalen idiopathischen Nystagmus gezeigt [34], zumindest nicht in der äußeren Netzhaut zu haben.…”

Section: Okulärer Albinismusunclassified

Albinimus und das Spektrum der Fundushypopigmentierung, der Makulahypoplasie und des Nystagmus

Preising

Lorenz

2016

Klin Monatsbl Augenheilkd

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From the ophthalmological view, albinism is a disorder of reduced pigmentation of the retinal and irdial pigment epithelium and the iris and choroid stroma. The reduced pigmentation is accompanied by morphological changes in the retina and the optic nerve. The functional relationship of these morphological changes is not yet well understood. This review summarises the genetic causes of reduced pigment synthesis and impaired pigment distribution, and discusses the variability of expression of albinism symptoms, in the light of other disorders affecting retinal development.

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A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family

Cited by 9 publications

References 17 publications

Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene

Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene

Ophthalmic genetics practice and research in India: Vision in 2020

Albinimus und das Spektrum der Fundushypopigmentierung, der Makulahypoplasie und des Nystagmus

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