Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

TitleGenome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsSchoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid B-M
JournalEuropean journal of human genetics : EJHG
Volume13
Issue2
Pagination260-3
Date Published2005 Feb
Abstract

Kabuki syndrome (KS) is a rare multiple congenitali anomalyi/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 chromosomei 8p, we could exclude the duplication in all our patients. In addition, we performed a genomei-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 genei 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 etiologyi of KS remains to be solved and further genetic studies are necessary to delineate its genetic cause.

Alternate JournalEur. J. Hum. Genet.
Citation Key15494738