15-year old man patient with renal coloboma syndrome caused by PAX2mutation

Lee, Yeo Jin; Lee, Hye Jin; Cheong, Hae Il; Han, Kyoung Hee

doi:2015.12.2.69

J Med Life Sci > Volume 12(2); 2015 > Article

Case Report

Journal of Medicine and Life Science 2015;12(2):69-71.
DOI: https://doi.org/10.22730/jmls.2015.12.2.69 Published online December 18, 2018.

PAX2 돌연변이에 의한 신장시신경유두결손 증후군을 진단 받은 15세 남자 환자

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15-year old man patient with renal coloboma syndrome caused by PAX2mutation

Yeo Jin Lee, Hye Jin Lee, Hae Il Cheong, Kyoung Hee Han

Correspondence: Kyoung Hee Han,

Abstract

Renal coloboma syndrome (RCS) is characterized by renal hypoplasia and optic disc coloboma. RCS is an autosomal dominant inherited disorder caused by PAX2 gene mutations. We report a case of RCS caused by PAX2 gene mutation in a 15-year-old man.

Key Words: Coloboma; Renal Coloboma Syndrome; Renal Hypoplasia; Renal Insufficiency, Chronic; PAX2 Transcription Factor