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

doi:10.1038/s41431-017-0007-0

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Article

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

European journal of human genetics : EJHG - 1 Feb 2018

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

Abstract excerpt

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...

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PMID: 29255276
DOI: 10.1038/s41431-017-0007-0
PMCID: PMC5839049

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CHD7

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