Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X ‐Linked Kabuki Syndrome Subtype 2

We present a mutation screening of 347 patients with Kabuki syndrome, which identified 208 mutations in KMT2D, as well as twelve novel KDM6A mutations. We discuss the molecular and clinical findings in this large cohort and compare them to the literature with a focus on the rarer X‐linked Kabuki syndrome type 2.

Source: Human Mutation - July 6, 2016 Category: Genetics & Stem Cells Authors: Nina B ögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek‐Kiper, Mouna Barat‐Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fa Tags: Mutation Update Source Type: research