De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30.

Abstract

Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227-kb deletion in chromosome Xp11.3 of a 7-year-old Chinese girl with KS. Besides the symptoms of KS, the patient also presented with skin allergic manifestations, which were considered to be a new, rare feature of the phenotypic spectrum. The deletion includes the upstream region and exons 1-2 of KDM6A and potentially causes haploinsuffiency of the gene. We also discuss the mutation spectrum of KDM6A and clinical variability of patients with KDM6A deletion through a literature review. © 2016 Wiley Periodicals, Inc.

Keywords: Kabuki syndrome; clinical variability; lysine (K)-specific demethylase 6A; skin allergic manifestations.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • China
  • DNA Mutational Analysis
  • Exons*
  • Face / abnormalities*
  • Facies
  • Female
  • Genes, X-Linked
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Hematologic Diseases / diagnosis*
  • Hematologic Diseases / genetics*
  • Histone Demethylases / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Nuclear Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Sequence Deletion*
  • Vestibular Diseases / diagnosis*
  • Vestibular Diseases / genetics*
  • X Chromosome Inactivation

Substances

  • Nuclear Proteins
  • Histone Demethylases
  • KDM6A protein, human

Supplementary concepts

  • Kabuki syndrome