PT  - JOURNAL ARTICLE
AU  - K Narahara
AU  - E Baker
AU  - S Ito
AU  - Y Yokoyama
AU  - S Yu
AU  - D Hewitt
AU  - G R Sutherland
AU  - M R Eccles
AU  - R I Richards
TI  - 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.
AID  - 10.1136/jmg.34.3.213
DP  - 1997 Mar 01
TA  - Journal of Medical Genetics
PG  - 213--216
VI  - 34
IP  - 3
4099  - http://jmg.bmj.com/content/34/3/213.short
4100  - http://jmg.bmj.com/content/34/3/213.full
SO  - J Med Genet1997 Mar 01; 34
AB  - 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.