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Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Luperchio, Teresa Romeo; Applegate, Carolyn D; Bodamer, Olaf; Bjornsson, Hans Tomas.
Affiliation
  • Luperchio TR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Applegate CD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Bodamer O; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bjornsson HT; Broad Institute of MIT and Harvard University, Cambridge, MA, USA.
Mol Genet Genomic Med ; 8(2): e1072, 2020 02.
Article in En | MEDLINE | ID: mdl-31814321
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Vestibular Diseases / DNA-Binding Proteins / Face / Hematologic Diseases / Neoplasm Proteins Limits: Female / Humans / Infant Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Vestibular Diseases / DNA-Binding Proteins / Face / Hematologic Diseases / Neoplasm Proteins Limits: Female / Humans / Infant Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: United States