A common NYX mutation in Flemish patients with X linked CSNB

@article{Leroy2008ACN,
  title={A common NYX mutation in Flemish patients with X linked CSNB},
  author={B. P. Leroy and Birgit Budde and Mariana Wittmer and E De Baere and Wolfgang Berger and Christina Zeitz},
  journal={British Journal of Ophthalmology},
  year={2008},
  volume={93},
  pages={692 - 696}
}
Aims: The Schubert–Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. It is characterised by a non-progressive disease course, often associated with high myopia and nystagmus. So far, mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB. The purpose of this study was to identify the genetic defect in affected male patients from Flemish families with… 
Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation
TLDR
The pathogenetic mechanisms in a family with diagnosed CSNB1A and a new genetically confirmed mutation in the NYX gene in four members of one Russian family are analyzed, the first report of a case with a novel and probable founder mutation from Russia associated with CSNB 1A.
NYX mutations in four families with high myopia with or without CSNB1
TLDR
The mutation spectrum of NYX is expanded for cases of high myopia with CSNB1; however, more evidence is needed to elucidate the pathogenic effects ofNYX on isolated high myopic patients.
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness
TLDR
The findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab, as two novel and likely pathogenic variants in two pedigrees are identified.
Electroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a Novel NYX Mutation
TLDR
The substantial loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations.
[Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].
TLDR
In vitro and in vivo models showed a correlation of the phenotype of patients with the expression, protein localization and function of the respective molecules, helpful in deciphering key molecules essential for signal transmission from photoreceptors to bipolar cells.
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
TLDR
Examination of this XLRS cohort for common RS1 haplotypes indicates that the founder effect plays a significant role in this disorder, including variants in mutational hotspots, which improves the accuracy of clinical variant classification and may be generalizable to other X-linked disorders.
Animal models of retinal disease.
Особенности патогенеза и клинического течения врожденной стационарной ночной слепоты при мутации c.283delC в гене NYX
TLDR
The pathogenetic mechanisms in a family with diagnosed CSNB1A and a new genetically confirmed mutation in the NYX gene in four members of one Russian family are analyzed, the first report of a case with a novel and probable founder mutation from Russia associated with CSNB 1A.
Leucine Rich Repeat Proteins: Sequences, Mutations, Structures and Diseases.
TLDR
The diverse effects of the mutations are discussed based on the known structures of LRR proteins, which influence protein folding, aggregation, oligomerization, stability, protein-ligand interactions, disulfide bond formation, and glycosylation.
TRPM1 Forms Complexes with Nyctalopin In Vivo and Accumulates in Postsynaptic Compartment of ON-Bipolar Neurons in mGluR6-Dependent Manner
TLDR
Results reveal a unique macromolecular organization of the mGluR6 cascade, where principal signaling components are scaffolded by nyctalopin, creating an organization essential for the correct localization of the signaling ensemble and ultimately intact transmission of the signal at the first visual synapse.
...
...

References

SHOWING 1-10 OF 28 REFERENCES
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
TLDR
In a pool of eight diagnosed X-linked congenital stationary night blindness patients, five showed a sequence variation in the CACNA1F and two in the NYX gene and in only one of the eight patients no sequence alteration could be detected.
Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6
TLDR
A recent report describes mutations of the GRM6 gene in three patients with autosomal recessive CSNB, a non-progressive retinal disorder characterised by defective night vision from birth that is clinically and genetically heterogeneous.
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
TLDR
The novel profile identified in this study suggests the existence of more than two rod pathways, which will help to discriminate autosomal recessive from X-linked recessive cases by ERG and molecular genetic analysis.
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
TLDR
The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
TLDR
It is established that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
TLDR
It is established that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.
Molecular genetics and protein function involved in nocturnal vision
TLDR
An overview of the genetically and clinically heterogeneous disease is provided and recent progress in identifying mutations in these ten genes is described, as well as the potential underlying molecular mechanisms of their products.
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255. We identified a retina-specific
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
TLDR
It is reported for the first time that mutations in CABP4 lead to autosomal recessive CSNB, and it is suggested that the reduced amount of CABp4 is the reason for the signaling defect in these patients.
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
TLDR
Data provide evidence that human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved.
...
...