CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-02

AUTHORS

Marine Legendre, Montserrat Rodriguez - Ballesteros, Massimiliano Rossi, Véronique Abadie, Jeanne Amiel, Nicole Revencu, Patricia Blanchet, Frédéric Brioude, Marie-Ange Delrue, Yassamine Doubaj, Abdelaziz Sefiani, Christine Francannet, Muriel Holder-Espinasse, Pierre-Simon Jouk, Sophie Julia, Judith Melki, Sébastien Mur, Sophie Naudion, Jennifer Fabre-Teste, Tiffany Busa, Stephen Stamm, Stanislas Lyonnet, Tania Attie-Bitach, Alain Kitzis, Brigitte Gilbert-Dussardier, Frédéric Bilan

ABSTRACT

CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in CHD7 IVS25. Combining computational in silico analysis, experimental branch-point determination and in vitro minigene assays, our study explains this mutation hot spot by a particular genomic context, including the weakness of the IVS25 natural acceptor-site and an unconventional lariat sequence localized outside the common 40 bp upstream the acceptor splice site. For each of the mutations reported here, bioinformatic tools indicated a newly created 3' splice site, of which the existence was confirmed using pSpliceExpress, an easy-to-use and reliable splicing reporter tool. Our study emphasizes the idea that combining these two complementary approaches could increase the efficiency of routine molecular diagnosis. More... »

PAGES

287-292

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-017-0007-0

DOI

http://dx.doi.org/10.1038/s41431-017-0007-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1099703921

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29255276


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