Novel frameshift mutation in <i>NYX</i> gene in a Russian family with complete congenital stationary night blindness

Ivanova, Mariya; Зольникова, И. В.; Горгишели, К. В.; Атарщиков, Д. С.; Ghosh, Preetam; Barh, Debmalya

doi:10.1080/13816810.2019.1698617

Cited by 6 publications

(5 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Affected individuals from family PKIURP51 had night blindness with high myopia, similar to the phenotype described by Yip et al [43]. Many reports suggest that mutations in the NYX gene are a common cause of X-linked CSNB in the Chinese and in other populations [43][44][45][46]. However, to the best of our knowledge, this is the first report of a NYX mutation in a Pakistani pedigree.…”

Section: Discussionsupporting

confidence: 79%

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

et al. 2021

View full text Add to dashboard Cite

Introduction: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. Methods: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified. Results: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gln223Pro) in RDH5 and NM_022567.2:c.908del (p.Gly303ValfsTer45) in NYX. In the two other families, the variants NM_002905.4:c.319G>C (p.Gly107Arg) in RDH5 and NM_000541.5:c.874C>T (p.Arg292Ter) in SAG were identified. These latter mutations have been reported previously, but not in the Pakistani population. Conclusions: Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab.

show abstract

Section: Discussionsupporting

confidence: 79%

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Studies have found that Riggs type patients present relatively mild visual symptoms, such as restricted night blindness but normal photopic visual acuity, slight myopia, and no nystagmus [ 3 ]. The complete form of the Schubert–Bornschein type involves some notable pathogenic genes, such as X-linked recessive NYX (leucine-rich proteoglycan nyctalopin) [ 18 , 19 , 20 ], autosomal recessive GRM6 [ 21 , 22 ], TRPM1 [ 4 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ], GPR179 [ 31 , 32 ], and LRIT3 [ 33 ], affecting signal transduction in the selective rod ON bipolar cell postsynaptic signal loss pathway. Typically, these complete type patients show moderate visual symptoms, including decreased visual acuity and high myopia.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Kim

Joo

Han

et al. 2021

Genes

View full text Add to dashboard Cite

In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3–21) years at the initial examination, 2 (1–8) years at symptom onset, and 11 (5–28) years during the final visit. Genetic mutations were identified as CNGB1 and GNAT1 for the Riggs type (n = 2), TRPM1 and NYX for the complete type (n = 3), and CACNA1F (n = 14) for the incomplete type. Three novel variants were identified, and best-corrected visual acuity (BCVA) and spherical equivalents (SE) were related to each type of CSNB. The Riggs and TRPM1 complete types presented mild myopia and good BCVA without strabismus and nystagmus, whereas the NYX complete and incomplete types showed mixed SE and poor BCVA with strabismus and nystagmus. This is the first case series of Korean patients with CSNB, and further studies with a larger number of subjects should be conducted to correlate the clinical and genetic aspects of CSNB.

show abstract

“…A few reports describe thinning of inner retinal layers (INLs) in cases with cCSNB as measured by spectral domain Optical Coherence Tomography (SD-OCT). However, this thinning is different from that observed in subjects with progressive rodcone dystrophy (Al Oreany et al, 2016;Godara et al, 2012;Ivanova et al, 2019). SD-OCT measurements done in the Lrit3 mouse model of cCSNB also revealed thinning of the INL (Neuille et al, 2014).…”

Section: Retinal Structure In Ccsnb and Myopiamentioning

confidence: 57%

Shedding light on myopia by studying complete congenital stationary night blindness

Zeitz¹,

Roger²,

Michiels³

et al. 2022

Acta Ophthalmologica

View full text Add to dashboard Cite

Purpose: Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in eye morphogenesis, extracellular matrix organization, visual perception, circadian rhythms, and retinal signalling. Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in human myopia. Complete congenital stationary night blindness (cCSNB) in humans and animal models represents an ON‐bipolar cell signal transmission defect and is also associated with high myopia. The purpose of this work was to identify the molecular cause of myopia present in cCSNB. Methods: A whole transcriptome sequencing (RNA‐seq) approach was performed using retina from three mouse lines with cCSNB, Gpr179−/−, Lrit3−/− and Grm6−/− and the expression data compared to data of age‐matched wild‐type littermates (n = 5). DEGs with fold changes of at least 1.2, p‐values of ≤0.01, an expression value of at least 5 transcripts per million reads and appearing in at least two cCSNB mouse lines were investigated in detail. A meta‐analysis was performed by (a) comparing our data with published transcriptome data from purified retinal cells and single cell RNA‐Seq data, (b) pathway analyses, (c) myopia databases and publications concerning their role in normal vision. Several of the DEGs were validated by RT‐qPCR experiments and analysed by western blot and immunolocalization studies. Results: More than 50 DEGs were found in at least two cCSNB mouse lines. Expression of those was found in different retinal cell types. The difference in expression was independent of the number of nuclei present in wild‐type and mutant inner retina. Pathway analysis revealed that mitogen‐activated protein kinase pathways, synaptic signalling, G protein‐coupled receptor ligand binding pathways, and proteins implicated in eye, endoderm and connective tissue development were affected in cCSNB. More than half of the genes were already associated with myopia. Conclusions: Our study reveals DEGs in all retinal cell types of cCSNB models, previously associated with myopia and novel candidates. These studies combined with pathway analyses provide the basis for the development of pharmacological and optical myopia therapies.

show abstract

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness

Cited by 6 publications

References 18 publications

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Shedding light on myopia by studying complete congenital stationary night blindness

Contact Info

Product

Resources

About