De novo inG619 mutation in PAX2 gene in a Japanee patient with papillorenal yndrome

Purpoe To decribe a Japanee patient with papillorenal yndrome (PR) and to identify the genetic defect reponible for the dieae. Deign Interventional cae report. Method Complete ophthalmologic and ytemic examination were performed, and direct genomic equencing of the PAX2 gene. Reult Fundu examination of a 3-year-old Japanee girl howed atypical coloboma bilaterally. At 6 year of age, he preented with proteinuria, and renal ultraonography howed hypoplatic kidney bilaterally. Molecular genetic analyi of the PAX2 gene revealed a de novo heterozygou inertion of a G at poition 619. Concluion Our finding ugget that an abnormal development of the optic talk led to the optic dik dyplaia in PAX2-aociated PR. Thi indicate that we hould conider renal abnormalitie when an atypical round coloboma i preent. Molecular genetic analyi of the PAX2 gene in combination with renal ultraonography can help in making an earlier diagnoi of the dieae.