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A novel missense va...
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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- Peter, Virginie G. (författare)
- University of Lausanne,University of Leicester
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- Nikopoulos, Konstantinos (författare)
- Lausanne University Hospital,University of Lausanne
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- Quinodoz, Mathieu (författare)
- University of Leicester,University of Lausanne
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- Granse, Lotta (författare)
- Lund University,Lunds universitet,Klinisk forskning kring familjer med ärftliga näthinnesjukdomar,Forskargrupper vid Lunds universitet,Clinical research in families with inherited retinal degeneration,Lund University Research Groups
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- Farinelli, Pietro (författare)
- University of Copenhagen
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- Superti-Furga, Andrea (författare)
- Lausanne University Hospital
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- Andréasson, Sten (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Rivolta, Carlo (författare)
- University of Lausanne,University of Leicester
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(creator_code:org_t)
- 2019-04-23
- 2019
- Engelska.
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Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 40:2, s. 177-181
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- IDH3A
- isocitrate dehydrogenase
- retinitis pigmentosa
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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