A Novel<i>NDP</i>Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

Aponte, Elisabeth P.; Pulido, José S.; Ellison, Jay W.; Quiram, Polly A.; Mohney, Brian G.

doi:10.1080/13816810802705755

Cited by 28 publications

(15 citation statements)

References 16 publications

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“…The recurrent missense mutation p.(E66K) (c.196G>A), 20 was identified in a 19-year-old male proband with macular dragging in the left eye. His healthy sister carried the same mutation in a heterozygous pattern.…”

Section: Mutations Detected In Ndpmentioning

confidence: 99%

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

Tang

Sun

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. LRP5, NDP, and TSPAN12 are known to be associated with familial exudative vitreoretinopathy (FEVR). In this study, a comprehensive mutation screening for the three genes was performed in patients with a clinical diagnosis of FEVR in Han Chinese.METHODS. Genomic DNA and clinical data were collected from 100 probands and their family members. Sanger sequencing was performed to screen for LRP5, NDP, and TSPAN12 mutations and phenotype-genotype correlation was analyzed.RESULTS. There were 23 causative mutations identified in 23 unrelated probands (10/23 in LRP5, 8/23 in TSPAN12, and 5/23 in NDP). Apart from NDP mutations, only two LRP5 mutations inherited in an autosomal recessive manner. Among the 23 causative mutations, 13 were novel variants (4/10 in LRP5, 6/8 in TSPAN12, and 3/5 in NDP). According to the modified classification system, statistical significance was observed in the distribution of mutated genes (P ¼ 0.049). None of the causative mutations was found in group I FEVR. Probands with LRP5 or NDP mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR.CONCLUSIONS. The detection rate for mutations in the three known genes was 23%. Mutations in LRP5 and TSPAN12 were more frequent, accounting for 10% and 8%, respectively. The NDP mutations were only identified in 6% in this cohort. There were 13 novel variants found, which provided a deeper understanding of this disease. Potential phenotype-genotype correlation was observed in the modified system. TSPAN12 mutations might lead to the most severe phenotype.

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Section: Mutations Detected In Ndpmentioning

confidence: 99%

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

Tang

Sun

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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“…7,64 In addition, NDP mutations have been identified in PFV, Coats disease, and ROP. 32,65,66 The majority of known mutations in NDP involve its cysteine knot domain. The cysteine knot domain binds to the CRD of FZD4 to initiate intracellular signalling so it is not surprising that mutations in this domain cause disease.…”

Section: Genetics and Molecular Mechanisms For Pathogenicitymentioning

confidence: 99%

“…31 Failure of the hyaloid vasculature to regress causes a range of pathology from non-sight threatening conditions (Bergmeister's papillae) to blindness (persistent fetal vasculature (PFV)) and can be a feature of FEVR. [32][33][34][35] Phenotypic characteristics in FEVR…”

Section: The Hyaloid Vasculaturementioning

confidence: 99%

Familial exudative vitreoretinopathy and related retinopathies

Gilmour

2014

Eye

227

175

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Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.

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“…Описано уже более 75 мутаций в этом гене, приво-дящих к развитию болезни [65]. Ген NDP отвечает за выработку белка норрина, принадлежащего к факторам роста.…”

Section: Helmholtz Research Institute Of Eye Diseases Moscow Russiaunclassified

Untitled

2017

ROJ

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A NovelNDPMutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

Cited by 28 publications

References 16 publications

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

Familial exudative vitreoretinopathy and related retinopathies

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