title: Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
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.
authors.affiliation: Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK. claire.turner@suht.swest.nhs.uk
authors.forename: Claire
authors.initials: C
authors.lastname: Turner
authors.forename: Katherine
authors.initials: K
authors.lastname: Lachlan
authors.forename: Nishani
authors.initials: N
authors.lastname: Amerasinghe
authors.forename: Peter
authors.initials: P
authors.lastname: Hodgkins
authors.forename: Viv
authors.initials: V
authors.lastname: Maloney
authors.forename: John
authors.initials: J
authors.lastname: Barber
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics