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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.
Afiliación
  • 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 en 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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Enfermedades Vestibulares / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Proteínas de Neoplasias Límite: Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Enfermedades Vestibulares / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Proteínas de Neoplasias Límite: Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos