Open AccessHaploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Author(s) -
Luperchio Teresa Romeo,
Applegate Carolyn D.,
Bodamer Olaf,
Bjornsson Hans Tomas
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1072
Subject(s) - haploinsufficiency , kabuki syndrome , medicine , genetics , pediatrics , biology , phenotype , gene
We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.