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Open AccessArticle

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

1
DNA Analysis Unit, ŁUKASIEWICZ Research Network–PORT Polish Center for Technology Development, 54-066 Wrocław, Poland
2
Children's Memorial Health Institute, 04-730 Warsaw, Poland
3
Department of Ophthalmology, Wrocław Medical University, 50-556 Wrocław, Poland
4
Department of Ophthalmology, University Clinical Centre, 80-214 Gdańsk, Poland
5
Department of Paediatric Traumatology and Emergency Medicine, Wrocław Medical University, 50-345 Wrocław, Poland
6
SPEKTRUM Ophthalmology Clinic, 53-334 Wrocław, Poland
7
Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland
8
Department of Human Genetics, Radboud University Medical Center, 6532 GA Nijmegen, The Netherlands
9
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6532 GA Nijmegen, The Netherlands
10
Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6532 GA Nijmegen, The Netherlands
*
Author to whom correspondence should be addressed.
Equal contribution of authors.
Genes 2019, 10(12), 959; https://doi.org/10.3390/genes10120959
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.
Keywords: ABCA4; Stargardt disease; cone-rod dystrophy; retinitis pigmentosa; inherited retinal disorders ABCA4; Stargardt disease; cone-rod dystrophy; retinitis pigmentosa; inherited retinal disorders
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.

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