Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
Joint Authors
Bertelli, M.
Ziccardi, Lucia
Iarossi, Giancarlo
Maltese, Paolo Enrico
Gusson, Elena
Marchini, Giorgio
Bruson, Alice
Benedetti, Sabrina
Volpetti, Sabrina
Catena, Gino
Buzzonetti, Luca
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-07-05
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature.
Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients.
Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination.
Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP.
Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing.
Six out of eight probands (75%) showed a genetic variation probably related to the phenotype.
We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR.
Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants).
None of the patients showed variants in the LRP5 gene.
This study represents the largest cohort study in Italian FEVR patients.
Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.
American Psychological Association (APA)
Iarossi, Giancarlo& Bertelli, M.& Maltese, Paolo Enrico& Gusson, Elena& Marchini, Giorgio& Bruson, Alice…[et al.]. 2017. Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. Journal of Ophthalmology،Vol. 2017, no. 2017, pp.1-10.
https://search.emarefa.net/detail/BIM-1184730
Modern Language Association (MLA)
Iarossi, Giancarlo…[et al.]. Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. Journal of Ophthalmology No. 2017 (2017), pp.1-10.
https://search.emarefa.net/detail/BIM-1184730
American Medical Association (AMA)
Iarossi, Giancarlo& Bertelli, M.& Maltese, Paolo Enrico& Gusson, Elena& Marchini, Giorgio& Bruson, Alice…[et al.]. Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. Journal of Ophthalmology. 2017. Vol. 2017, no. 2017, pp.1-10.
https://search.emarefa.net/detail/BIM-1184730
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1184730