ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing
Author:
Affiliation:
1. Medical Biosciences/Medical and Clinical Genetics; University of Umeå; Umeå Sweden
2. Clinical Sciences/Ophthalmology; University of Umeå; Umeå Sweden
Funder
Stiftelsen Kronprinsessan Margaretas Arbetsnämnd för Synskadade
Umeå Universitet
Västerbotten Läns Landsting
Publisher
Wiley
Subject
Ophthalmology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13676/fullpdf
Reference35 articles.
1. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level;Aukrust;Acta Ophthalmol,2017
2. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients;Bauwens;Hum Mutat,2015
3. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant;Bax;Hum Mutat,2015
4. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa;Bowne;Hum Mol Genet,2002
5. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease;Braun;Hum Mol Genet,2013
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