Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
Mostra el registre complet Registre parcial de l'ítem
- dc.contributor.author Cuscó Martí, Ivon, 1973-ca
- dc.contributor.author Campo Casanelles, Miguel del, 1966-ca
- dc.contributor.author Vilardell Nogales, Mireiaca
- dc.contributor.author González, Evaca
- dc.contributor.author Gener, Blancaca
- dc.contributor.author Galán, Enriqueca
- dc.contributor.author Toledo, Lauraca
- dc.contributor.author Pérez Jurado, Luis Albertoca
- dc.date.accessioned 2014-12-17T10:26:06Z
- dc.date.available 2014-12-17T10:26:06Z
- dc.date.issued 2008ca
- dc.description.abstract Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods: We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results: No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion: Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.
- dc.description.sponsorship This work was funded by grants from the Spanish Ministry of Health (FIS PI042063), Genome Spain and the European Commission (FP6-2005-037627). IC was supported by a Juan de la Cierva Postdoctoral fellowship.
- dc.format.mimetype application/pdfca
- dc.identifier.citation Cuscó I, Campo del M, Vilardell M, González E, Gener B, Galán E et al. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Medical Genetics. 2008;9:27. DOI: 10.1186/1471-2350-9-27ca
- dc.identifier.doi http://dx.doi.org/10.1186/1471-2350-9-27
- dc.identifier.issn 1471-2350ca
- dc.identifier.uri http://hdl.handle.net/10230/22981
- dc.language.iso engca
- dc.publisher BioMed Centralca
- dc.relation.ispartof BMC Medical Genetics. 2008 April;9:27
- dc.relation.projectID info:eu-repo/grantAgreement/EC/FP6/037627
- dc.rights © 2008 Cuscó et al; licensee BioMed Central Ltd. /nThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri http://creativecommons.org/licenses/by/2.0
- dc.subject.other Malformacions
- dc.subject.other Genomes
- dc.subject.other Assaigs clínics
- dc.title Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca