A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Peter, Virginie G. ; Nikopoulos, Konstantinos ; Quinodoz, Mathieu ; Granse, Lotta LU
; Farinelli, Pietro
LU
; Superti-Furga, Andrea
; Andréasson, Sten
LU
and Rivolta, Carlo
(2019)
In Ophthalmic Genetics
40(2).
p.177-181
- Abstract
Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of... (More)
Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.
(Less)
- author
- Peter, Virginie G.
; Nikopoulos, Konstantinos
; Quinodoz, Mathieu
; Granse, Lotta
LU
; Farinelli, Pietro
LU
; Superti-Furga, Andrea
; Andréasson, Sten
LU
and Rivolta, Carlo
- organization
- publishing date
- 2019-04-23
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- IDH3A, isocitrate dehydrogenase, retinitis pigmentosa
- in
- Ophthalmic Genetics
- volume
- 40
- issue
- 2
- pages
- 177 - 181
- publisher
- Taylor & Francis
- external identifiers
-
- scopus:85064731516
- pmid:31012789
- ISSN
- 1381-6810
- DOI
- 10.1080/13816810.2019.1605391
- language
- English
- LU publication?
- yes
- id
- 15e19b1c-6d1a-414b-b5ec-ab7a416f059f
- date added to LUP
- 2019-05-07 13:06:11
- date last changed
- 2024-03-19 06:35:43
@article{15e19b1c-6d1a-414b-b5ec-ab7a416f059f,
abstract = {{<p>Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.</p>}},
author = {{Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo}},
issn = {{1381-6810}},
keywords = {{IDH3A; isocitrate dehydrogenase; retinitis pigmentosa}},
language = {{eng}},
month = {{04}},
number = {{2}},
pages = {{177--181}},
publisher = {{Taylor & Francis}},
series = {{Ophthalmic Genetics}},
title = {{A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa}},
url = {{http://dx.doi.org/10.1080/13816810.2019.1605391}},
doi = {{10.1080/13816810.2019.1605391}},
volume = {{40}},
year = {{2019}},
}