Abstract
Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome. It is characterized by a distinct facial appearance, mental retardation, postnatal growth retardation, skeletal anomalies, unusual dermatoglyphics and fetal fingertip pads. It has previously been speculated that KS is caused by a microdeletion or duplication. In a recent report, an interstitial microduplication of 8p22–23.1 was presented in several cases with this disorder. We investigated 10 Caucasian patients diagnosed with KS by fluorescence in situ hybridization and microsatellite markers located on 8p22–23.1. Using the same clones that were previously reported to be duplicated on chromosome 8p, we could exclude the duplication in all our patients. In addition, we performed a genome-wide screening on this group of patients using array-based comparative genomic hybridization containing BAC clones spaced at approximately 1 Mb intervals across the genome and could not find any evidence for gene dose alterations. The characteristics of KS are variable, a fact that complicates the diagnosis of this disorder. It is possible that we will find genetic heterogeneity among Kabuki patients, and therefore it is unlikely that all patients have an interstitial 8p duplication. We conclude that the etiology of KS remains to be solved and further genetic studies are necessary to delineate its genetic cause.
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Acknowledgements
We are greatly indebted to the patients and their parents. We also thank our Clinical colleagues from Swedish and Danish pediatric departments for referring the patients and the Welcome Trust Sanger Institute, UK for providing the BAC clones. This work was supported by funds from the Swedish Medical Research Council, Frimurarna Barnahuset Foundation, Linnea och Josef Carlsson Stiftelse, Stiftelsen Sävstaholm and the Ronald McDonald Child Foundation.
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Schoumans, J., Nordgren, A., Ruivenkamp, C. et al. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet 13, 260–263 (2005). https://doi.org/10.1038/sj.ejhg.5201309
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DOI: https://doi.org/10.1038/sj.ejhg.5201309
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