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Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and undertook a detailed clinical, ophthalomological and molecular cytogenetic review. Three of the seven patients had previously undetected ocular anomalies including myopia, ptosis, strabismus and tilted discs. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients. Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established.
kabuki, ocular, duplication, 8p22-p23.1, female, preschool, congenital, child, human, abnormalities, patients, pair 8, genetics, male, multiple, chromosome aberrations, chromosomes, adolescent, mental retardation, review, cohort, fluorescence, vision disorders, eye abnormalities, report, syndrome, humans
1018-4813
716-720
Turner, Claire
bd02062f-4d48-4dde-96d6-c8abff2c3bb7
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Amerasinghe, Nishani
b7dbd498-403b-4c57-a6ef-c097c03b3e85
Hodgkins, Peter
fe7c8eea-52a0-40fd-8995-2413c38a8fcd
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Barber, John
4785a6e4-bd63-4230-ab61-41a0ae12c761
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Turner, Claire
bd02062f-4d48-4dde-96d6-c8abff2c3bb7
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Amerasinghe, Nishani
b7dbd498-403b-4c57-a6ef-c097c03b3e85
Hodgkins, Peter
fe7c8eea-52a0-40fd-8995-2413c38a8fcd
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Barber, John
4785a6e4-bd63-4230-ab61-41a0ae12c761
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Turner, Claire, Lachlan, Katherine, Amerasinghe, Nishani, Hodgkins, Peter, Maloney, Viv, Barber, John and Temple, I. Karen (2005) Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. European Journal of Human Genetics, 13 (6), 716-720. (doi:10.1038/sj.ejhg.5201377).

Record type: Article

Abstract

The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and undertook a detailed clinical, ophthalomological and molecular cytogenetic review. Three of the seven patients had previously undetected ocular anomalies including myopia, ptosis, strabismus and tilted discs. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients. Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established.

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Published date: June 2005
Keywords: kabuki, ocular, duplication, 8p22-p23.1, female, preschool, congenital, child, human, abnormalities, patients, pair 8, genetics, male, multiple, chromosome aberrations, chromosomes, adolescent, mental retardation, review, cohort, fluorescence, vision disorders, eye abnormalities, report, syndrome, humans

Identifiers

Local EPrints ID: 25001
URI: http://eprints.soton.ac.uk/id/eprint/25001
ISSN: 1018-4813
PURE UUID: 819ebf96-557c-42a2-a5a1-d1b824639d28
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 04 Apr 2006
Last modified: 16 Mar 2024 03:03

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Contributors

Author: Claire Turner
Author: Katherine Lachlan
Author: Nishani Amerasinghe
Author: Peter Hodgkins
Author: Viv Maloney
Author: John Barber
Author: I. Karen Temple ORCID iD

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