ArticleBMC ophthalmology2016
Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.
Article in BMC ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Pooled it
- Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.Clinical & experimental ophthalmology · 2025Review
- Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Investigative ophthalmology & visual science · 2024Article
- FEVR combined with macular heterotopia in children presenting as pseudo-exotropia: a case report and literature review.Frontiers in medicine · 2024Article
- Novel Exon 7 Deletions inGenes · 2023Review
- Avascular Peripheral Retina in Infants.Turkish journal of ophthalmology · 2023Review
- Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.Annals of medicine · 2022Article
- A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation ofFrontiers in genetics · 2022Article
- Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Norrin restores blood-retinal barrier properties after vascular endothelial growth factor-induced permeability.The Journal of biological chemistry · 2020Article
- A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy.Molecular genetics & genomic medicine · 2019Article
- Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/Journal of ophthalmology · 2019Review
- Variable reduction in Norrin signaling activity caused by novel mutations inMolecular vision · 2019Article
- Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.International journal of molecular medicine · 2018Article
- Article
- Molecular genetics and targeted therapy of WNT-related human diseases (Review).International journal of molecular medicine · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in candidate genes that encode for a ligand (NDP) and receptor complex (FZD4, LRP5 and TSPAN12) in the Norrin β-catenin signaling pathway are involved in the pathogenesis of familial exudative vitreoretinopathy (FEVR, MIM # 133780). Recently, a transcription factor (ZNF408) has also been implicated in FEVR. We had earlier characterized the variations in NDP among FEVR patients from India. The present study aimed at understanding the involvement of the remaining genes (FZD4, TSPAN12 and ZNF408) in the same cohort.
methodsThe DNA of 110 unrelated FEVR patients and 115 unaffected controls were screened for variations in the entire coding and untranslated regions of these 3 genes by resequencing. Segregation of the disease-associated variants was assessed in the family members of the probands. The effect of the observed missense changes were further analyzed by SIFT and PolyPhen-2 scores.
resultsThe screening of FZD4, TSPAN12 and ZNF408 genes identified 11 different mutations in 15/110 FEVR probands. Of the 11 identified mutations, 6 mutations were novel. The detected missense mutations were mainly located in the domains which are functionally crucial for the formation of ligand-receptor complex and as they replaced evolutionarily highly conserved amino acids with a SIFT score < 0.005, they are predicted to be pathogenic. Additionally 2 novel and 16 reported single nucleotide polymorphisms (SNP) were also detected.
conclusionsOur genetic screening revealed varying mutation frequencies in the FZD4 (8.0 %), TSPAN12 (5.4 %) and ZNF408 (2.7 %) genes among the FEVR patients, indicating their potential role in the disease pathogenesis. The observed mutations segregated with the disease phenotype and exhibited variable expressivity. The mutations in FZD4 and TSPAN12 were involved in autosomal dominant and autosomal recessive families and further validates the involvement of these gene in FEVR development.
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