Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano; Alejandro Garanto; Mubeen Khan; Esmee H. Runhart; Miriam Bauwens; Nathalie M. Bax; L. Ingeborgh van den Born; Muhammad Imran Khan; Stéphanie S. Cornelis; Joanne Verheij; Jan-Willem R. Pott; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Bernard Puech; Isabelle Meunier; Sarah Naessens; Gavin Arno; Ana Fakin; Keren Carss; F. Lucy Raymond; Andrew R. Webster; Claire‐Marie Dhaenens; Heidi Stöhr; Felix Graßmann; Bernhard H. F. Weber; Carel B. Hoyng; Elfride De Baere; Sílvia Albert; Rob W.J. Collin; Frans P.M. Cremers

doi:10.1038/s41436-018-0414-9

Abstract

Our data demonstrate the importance of assessing noncoding variants in genetic diseases, and show the great potential of splice modulation therapy for deep-intronic variants.

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Sangermano et al. (2019) studied this question.

synapsesocial.com/papers/69d91e2e7fca1f84ab684382 https://doi.org/10.1038/s41436-018-0414-9

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Abstract

Discussion

Cite This Study

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Abstract

Discussion

Cite This Study

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