title: Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
abstract: We describe a 5 year old boy with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (ONCR). On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46,XY,t(10;13)(q24.3;q12.3) or t(10;13) (q25.2;q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B. These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with ONCR. Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1.
authors.affiliation: Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: E
authors.initials: E
authors.lastname: Baker
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: S
authors.initials: S
authors.lastname: Yu
authors.forename: D
authors.initials: D
authors.lastname: Hewitt
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
authors.forename: M R
authors.initials: MR
authors.lastname: Eccles
authors.forename: R I
authors.initials: RI
authors.lastname: Richards
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D003103:Coloboma / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor; D011507:Proteinuria; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors