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2005:
Armstrong Linlea; Abd El Moneim Azza; Aleck Kirk; Aughton David J; Baumann Clarisse; Braddock Stephen R; Gillessen-Kaesbach Gabriele; Graham John M; Grebe Theresa A; Gripp Karen W; Hall Bryan D; Hennekam Raoul; Hunter Alasdair; Keppler-Noreuil Kim; Lacombe Didier; Lin Angela E; Ming Jeffrey E; Kokitsu-Nakata Nancy Mizue; Nikkel Sarah M; Philip Nicole; Raas-Rothschild Annick; Sommer Annemarie; Verloes Alain; Walter Claudia; Wieczorek Dagmar; Williams Marc S; Zackai Elaine; Allanson Judith E
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
American journal of medical genetics. Part A 2005;
132A(
3):.
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 The diagnosis was agreed upon in 48 previously unpublished individuals.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.
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