A case of Kearns–Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles

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• 作者：Emna Mkaouar-Rebai ; Imen Chamkha ; Thouraya Kammoun ; Imen Chabchoub ; Hajer Aloulou ; Nourhene Fendri ; Mongia Hachicha ; Faiza Fakhfakh
• 关键词：Kearns– ; Sayre syndrome ; mtDNA deletion ; Mitochondrial DNA ; Heteroplasmy ; Long-range PCR ; Common deletion
• 刊名：Mitochondrion
• 出版年：2010
• 出版时间：August 2010
• 年：2010
• 卷：10
• 期：5
• 页码：449-455
• 全文大小：1068 K

文摘

Kearns–Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124–15,893 and 8572–15,826 associated with the common 4.977 kb deletion.