Article
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Human molecular genetics - 1 Nov 2018
Cocciadiferro Dario, Augello Bartolomeo, De Nittis Pasquelena, Zhang Jiyuan, Mandriani Barbara, Malerba Natascia, Squeo Gabriella M, Romano Alessandro, Piccinni Barbara, Verri Tiziano, Micale Lucia, Pasqualucci Laura, Merla Giuseppe
Abstract excerpt
Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransferase KMT2D and the demethylase KDM6A revealed a causative role for histone modifiers in this disease. However, the role of missense mutations has remained unexplored....
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