The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants
- Runhart, E.H. (Esmee H.)
- Sangermano, R. (Riccardo)
- Cornelis, S.S. (Stéphanie S.)
- Verheij, J.B. (Joke)
- Plomp, A. (Astrid)
- Boon, C.J.F. (Camiel)
- Lugtenberg, D. (Dorien)
- Roosing, S. (Susanne)
- Bax, N.M. (Nathalie)
- Blokland, E.A.W. (Ellen)
- Jacobs-Camps, M.H.M. (Marlie H. M.)
- van der Velde-Visser, S.D. (Saskia D.)
- Pott, J.-W.R. (Jan-Willem R.)
- Rohrschneider, K. (Klaus)
- Thiadens, A.A.H.J. (Alberta)
- Klaver, C.C.W. (Caroline)
- Born, L.I. (Ingeborgh) van den
- Hoyng, C.B. (Carel)
- Cremers, F.P.M. (Frans)
Publication date
July 2018
DOI Publisher
Association for Research in Vision and Ophthalmology (ARVO)Abstract
PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. METHODS. The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants. In case p.Asn1868Ile was detected, segregation analysis was performed whenever possible. Probands and affected siblings harboring p.Asn1868Ile without additional variants in cis were clinically evaluated retrospe
Extracted data
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