Further delineation of Kabuki syndrome in 48 well-defined new individuals

Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340.


Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study of Kabuki syndrome had two objectives. The first was to further describe the syndrome features. In order to do so, clinical geneticists were asked to submit cases-providing clinical photographs and completing a phenotype questionnaire for individuals in whom they felt the diagnosis of Kabuki syndrome was secure. All submitted cases were reviewed by four diagnosticians familiar with Kabuki syndrome. The diagnosis was agreed upon in 48 previously unpublished individuals. Our data on these 48 individuals show that Kabuki syndrome variably affects the development and function of many organ systems. The second objective of the study was to explore possible etiological clues found in our data and from review of the literature. We discuss advanced paternal age, cytogenetic abnormalities, and familial cases, and explore syndromes with potentially informative overlapping features. We find support for a genetic etiology, with a probable autosomal dominant mode of inheritance, and speculate that there is involvement of the interferon regulatory factor 6 (IRF6) gene pathway. Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Cardiovascular Abnormalities*
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 8 / genetics
  • Craniofacial Abnormalities / pathology
  • DNA-Binding Proteins / genetics
  • Developmental Disabilities / pathology
  • Female
  • Gastrointestinal Tract / abnormalities*
  • Growth Disorders / pathology
  • Humans
  • Immune System / abnormalities*
  • Intellectual Disability / pathology
  • Interferon Regulatory Factors
  • Karyotyping
  • Male
  • Maternal Age
  • Musculoskeletal Abnormalities*
  • Paternal Age
  • Review Literature as Topic
  • Syndrome
  • Transcription Factors / genetics
  • Urogenital Abnormalities*


  • DNA-Binding Proteins
  • IRF6 protein, human
  • Interferon Regulatory Factors
  • Transcription Factors