Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

J Korean Neurol Assoc > Volume 24(3); 2006 > Article

Journal of the Korean Neurological Association 2006;24(3): 260-264.

사립체 DNA의 거대 결손이 확인된 Kearns-Sayre 증후군

김숙희, 황정희a 정기화a 김희진 김지영 박기덕 선우일남b 최병옥

이화여자대학교 의과대학 신경과학교실, 공주대학교 생명과학과a, 연세대학교 의과대학 신경과학교실b

Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Sook-Hui Kim

Department of Neurology, College of Medicine, Ewha Womans University, Seoul; Department of Biological Science, Kongju National Universitya, Gongju; Department of Neurology, College of Medicine, Yonsei Universityb, Seoul, Korea

Abstract

Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.KeyWords:Mitochondria, Kearns-Sayre syndrome, Deletion