Article
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
European journal of human genetics : EJHG - 1 Apr 2017
Quartier Angélique, Poquet Hélène, Gilbert-Dussardier Brigitte, Rossi Massimiliano, Casteleyn Anne-Sophie, Portes Vincent des, Feger Claire, Nourisson Elsa, Kuentz Paul, Redin Claire, Thevenon Julien, Mosca-Boidron Anne-Laure, Callier Patrick, Muller Jean, Lesca Gaetan, Huet Frédéric, Geoffroy Véronique, El Chehadeh Salima, Jung Matthieu, Trojak Benoit, Le Gras Stéphanie, Lehalle Daphné, Jost Bernard, Maury Stéphanie, Masurel Alice, Edery Patrick, Thauvin-Robinet Christel, Gérard Bénédicte, Mandel Jean-Louis, Faivre Laurence, Piton Amélie
Abstract excerpt
Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported...
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