PAX2 Gene Assay in a Family of Ocular Coloboma with
Bilateral Renal Hypoplasia

Korean Journal of Nephrology 2008;27(2):220-223.

PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia

Woo Kyun Bae, M.D.1, Jeong Woo Park, M.D.1 , Eun Hui Bae, M.D.1, Seong Kwon Ma, M.D.1, Nam Ho Kim, M.D.1, Ki Chul Choi, M.D.1, Jae Kyoun Ahn, M.D.2, Ju Hyun Yun, M.D.3, Hyeoung Joon Kim, M.D.3 and Soo Wan Kim, M.D., Ph.D.1

Departments of Internal Medicine1 and Opthalmology²
Chonnam National University Medical School, Gwangju, Korea; Genome Research Center of Hematopoietic disease³
Chonnam National University Hwasun Hospital, Hwasun, Korea

증례 : PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia

Departments of Internal Medicine1 and Opthalmology2, Chonnam National University Medical School, Gwangju, Korea; Genome Research Center of Hematopoietic disease3, Chonnam National University Hwasun Hospital, Hwasun, Korea

Abstract

We report one family with bilateral renal hypoplasia and ocular coloboma in two consecutive generations. Ophthalmological examination revealed optic disc coloboma and decreased visual acuity. Fragments spanning exon 1-12 of the PAX2 gene were amplified from genomic DNA using PCR primers. The PCR products were purified and directly sequenced. No definite mutation was detected in the PAX2 genes in these patients, but two coding region single nucleotide polymorphisms were identified. This result suggests that the optic disc coloboma with bilateral renal hypoplasia might be genetically heterogenous or other genes could be responsible.

Key Words: Coloboma, PAX2 protein