Molecular analysis of the NDP gene in two families with Norrie disease

Rivera-Vega, M.R.; Chiñas-López, Silvet et; Vaca, A.L. Jimenez; Arenas-Sordo, M Luz; Kofman‐Alfaro, Susana; Messina-Baas, Olga; Cuevas-Covarrubias, Sergio A.

doi:10.1111/j.1600-0420.2005.00398.x

Cited by 6 publications

(2 citation statements)

References 27 publications

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“… 72 reported as ND Diagnosis of ND 98 0 M 5/5 Sporadic c.290G>C (p.R97P) - p.R97P (N) Ref. 73 reported as ND Diagnosis of ND, included in our earlier report 23 99 0 M 5/5 Sporadic c.295_300del (p.Q99_T100del) - p.Q99_T100del (N) No Diagnosis of ND 100 0 M 5/5 Sporadic c.334_340del (p.G112Cfs∗148) - U No Diagnosis of ND 101 11 M 3/3 Sporadic c.344G>T (p.R115L) - p.R115L (N) 23 Included in our earlier report 23 102 ‡ 21 M 4/3 Familial c.344G>T (p.R115L) - p.R115L (N) 23 103 0 M 5/5 Sporadic c.376T>G (p.C126G) - p.C126G No Diagnosis of ND A = affected phenotype; F = female; FEVR = familial exudative vitreoretinopathy; M = male; N = normal phenotype; ND = Norrie disease; U = undetermined genotype and/or phenotype; wt = wild type. † All variants found as heterozygous in the parent.…”

Section: Resultsmentioning

confidence: 99%

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes

Kondo,

Tsukahara-Kawamura,

Matsushita

et al. 2024

Ophthalmology Science

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Section: Resultsmentioning

confidence: 99%

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes

Kondo,

Tsukahara-Kawamura,

Matsushita

et al. 2024

Ophthalmology Science

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“…According to the statistics, of more than 60% of ND patients with point mutations (>60%), about 20% of patients have deletions of the NDP gene. [ 18 ] NDP encodes Norrin protein which contains the cystine-knot domain. [ 19 ] Most mutations of NDP gene associated with ND are related to this domain, such as P98 L (c.293C>T) and S111X (c.332C>A).…”

Section: Discussionmentioning

confidence: 99%

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

Huang

Tian

et al. 2017

Indian J Ophthalmol

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Purpose:Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND.Methods:To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing.Results:We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual.Conclusion:c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

et al. 2010

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Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the genes encoding the low density lipoprotein receptor protein 5 (LRP5) and frizzled 4 (FZD4), acting as coreceptors for Wnt ligands, cause familial exudative vitreoretinopathy (FEVR). Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR. Both FEVR and Norrie disease share similar phenotypic characteristics, including abnormal vascularization of the peripheral retina and formation of fibrovascular masses in the eye that can lead to blindness. In this mutation update, we report 21 novel variants for FZD4, LRP5, and NDP, and discuss the putative functional consequences of missense mutations. In addition, we provide a comprehensive overview of all previously published variants in the aforementioned genes and summarize the phenotypic characteristics in mouse models carrying mutations in the orthologous genes. The increasing molecular understanding of Wnt signaling, related to ocular development and blood supply, offers more tools for accurate disease diagnosis that may be important in the development of therapeutic interventions.

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Molecular analysis of the NDP gene in two families with Norrie disease

Cited by 6 publications

References 27 publications

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

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