Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.
BACKGROUND
Kabuki (Niikawa-Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22-p23.1 in 13/13 patients.


OBJECTIVE
To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome.


METHODS
An 8p duplication was sought using two independent methods--array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)--in 15 patients with a definitive clinical diagnosis of Kabuki syndrome.


RESULTS
No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients.


CONCLUSIONS
8p22-p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.
Hoffman
J D
JD
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Zhang
Y
Y
Greshock
J
J
Ciprero
K L
KL
Emanuel
B S
BS
Zackai
E H
EH
Weber
B L
BL
Ming
J E
JE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D022202:Chromosomes, Artificial, Bacterial; D002898:Chromosomes, Human, Pair 8; D015331:Cohort Studies; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D009693:Nucleic Acid Hybridization; D015203:Reproducibility of Results