Yun Li, Nina Bögershausen, Yasemin Alanay, Pelin Ozlem Simsek Kiper, Nadine Plume, Katharina Keupp, Esther Pohl, Barbara Pawlik, Martin Rachwalski, Esther Milz, Michaela Thoenes, Beate Albrecht, Eva-Christina Prott, Margret Lehmkühler, Stephanie Demuth, Gülen Eda Utine, Koray Boduroglu, Katja Frankenbusch, Guntram Borck, Gabriele Gillessen-Kaesbach, Gökhan Yigit, Dagmar Wieczorek, Bernd Wollnik
Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo...
December 2011: Human Genetics