The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.
Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D. I., Stefanini, M. C., Mercuri, E. M., Chiurazzi, P., Neri, G., Marangi, G., Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype, <<NATURE GENETICS>>, 2012; 44 (6): 636-638. [doi:10.1038/ng.2257] [https://hdl.handle.net/10807/31926]
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Zollino, Marcella;Orteschi, Daniela;Murdolo, Marina;Lattante, Serena;Battaglia, Domenica Immacolata;Stefanini, Maria Chiara;Mercuri, Eugenio Maria;Chiurazzi, Pietro;Neri, Giovanni;Marangi, Giuseppe
2012
Abstract
The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.
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