Article
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
American journal of human genetics - 2 Nov 2012
Carmignac Virginie, Thevenon Julien, Adès Lesley, Callewaert Bert, Julia Sophie, Thauvin-Robinet Christel, Gueneau Lucie, Courcet Jean-Benoit, Lopez Estelle, Holman Katherine, Renard Marjolijn, Plauchu Henri, Plessis Ghislaine, De Backer Julie, Child Anne, Arno Gavin, Duplomb Laurence, Callier Patrick, Aral Bernard, Vabres Pierre, Gigot Nadège, Arbustini Eloisa, Grasso Maurizia, Robinson Peter N, Goizet Cyril, Baumann Clarisse, Di Rocco Maja, Sanchez Del Pozo Jaime, Huet Frédéric, Jondeau Guillaume, Collod-Beroud Gwenaëlle, Beroud Christophe, Amiel Jeanne, Cormier-Daire Valérie, Rivière Jean-Baptiste, Boileau Catherine, De Paepe Anne, Faivre Laurence
Abstract excerpt
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense...
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