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Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

DNA Analysis Unit, ŁUKASIEWICZ Research Network–PORT Polish Center for Technology Development, 54-066 Wrocław, Poland
Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Department of Ophthalmology, Wrocław Medical University, 50-556 Wrocław, Poland
Department of Ophthalmology, University Clinical Centre, 80-214 Gdańsk, Poland
Department of Paediatric Traumatology and Emergency Medicine, Wrocław Medical University, 50-345 Wrocław, Poland
SPEKTRUM Ophthalmology Clinic, 53-334 Wrocław, Poland
Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland
Department of Human Genetics, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, The Netherland
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, PO Box 9104, 6500 HE Nijmegen, The Netherlands
Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Author to whom correspondence should be addressed.
Equal contribution of authors.
Genes 2019, 10(12), 959;
Received: 22 October 2019 / Revised: 5 November 2019 / Accepted: 19 November 2019 / Published: 21 November 2019
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since the knowledge of the genetic causes of inherited retinal diseases (IRDs) in Poland is still scarce, the purpose of this study was to identify pathogenic ABCA4 variants in a subgroup of Polish IRD patients. We recruited 67 families with IRDs as a part of a larger study. The patients were screened with next generation sequencing using a molecular inversion probes (MIPs)-based technique targeting 108 genes involved in the pathogenesis of IRDs. All identified mutations were validated and their familial segregation was tested using Sanger sequencing. In the case of the most frequent complex allele, consisting of two variants in exon 12 and 21, familial segregation was tested using restriction fragment length polymorphism (RFLP). The most prevalent variant, a complex change c.[1622T>C;3113C>T], p.[Leu541Pro;Ala1038Val], was found in this cohort in 54% of all solved ABCA4-associated disorder cases, which is the highest frequency reported thus far. Additionally, we identified nine families displaying a pseudo-dominant mode of inheritance, indicating a high frequency of pathogenic variants within this population. View Full-Text
Keywords: ABCA4; Stargardt disease; cone-rod dystrophy; retinitis pigmentosa; inherited retinal disorders ABCA4; Stargardt disease; cone-rod dystrophy; retinitis pigmentosa; inherited retinal disorders
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MDPI and ACS Style

Tracewska, A.M.; Kocyła-Karczmarewicz, B.; Rafalska, A.; Murawska, J.; Jakubaszko-Jablonska, J.; Rydzanicz, M.; Stawiński, P.; Ciara, E.; Khan, M.I.; Henkes, A.; Hoischen, A.; Gilissen, C.; van de Vorst, M.; Cremers, F.P.M.; Płoski, R.; Chrzanowska, K.H. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes 2019, 10, 959.

AMA Style

Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes. 2019; 10(12):959.

Chicago/Turabian Style

Tracewska, Anna M., Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad I. Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P.M. Cremers, Rafał Płoski, and Krystyna H. Chrzanowska. 2019. "Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland" Genes 10, no. 12: 959.

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